ClinVar

NM_015443.4(KANSL1):c.-90+512del

Gene:

KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 46192311 (on Assembly GRCh38)
• Chr17: 44269677 (on Assembly GRCh37)

Preferred name:

NM_015443.4(KANSL1):c.-90+512del

HGVS:

• NC_000017.11:g.46192323del
• NG_032784.1:g.38064del
• NM_001193465.2:c.-89-20079del
• NM_001193466.2:c.-90+108del
• NM_001379198.1:c.-89-20079del
• NM_015443.4:c.-90+512delMANE SELECT
• NC_000017.10:g.44269689del

This HGVS expression did not pass validation

Molecular consequence:

• NM_001193465.2:c.-89-20079del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193466.2:c.-90+108del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379198.1:c.-89-20079del - intron variant - [Sequence Ontology: SO:0001627]
• NM_015443.4:c.-90+512del - intron variant - [Sequence Ontology: SO:0001627]