ClinVar

NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs)

Gene:

ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p13.1

Genomic location:

• Chr2: 73572990 - 73573008 (on Assembly GRCh38)
• Chr2: 73800117 - 73800135 (on Assembly GRCh37)

Preferred name:

NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs)

HGVS:

• NC_000002.12:g.73572990_73573008del
• NG_011690.1:g.192238_192256del
• NM_001378454.1:c.11113_11131delMANE SELECT
• NM_015120.4:c.11116_11134del
• NP_001365383.1:p.Arg3705fs
• NP_055935.4:p.Arg3706fs
• LRG_741t1:c.11116_11134del
• LRG_741:g.192238_192256del
• LRG_741p1:p.Arg3706fs
• NC_000002.11:g.73800117_73800135del
• NM_015120.4:c.11116_11134del19

This HGVS expression did not pass validation

Protein change:

R3705fs

Links:

dbSNP: rs398122992

NCBI 1000 Genomes Browser:

rs398122992

Molecular consequence:

• NM_001378454.1:c.11113_11131del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_015120.4:c.11116_11134del - frameshift variant - [Sequence Ontology: SO:0001589]