Canonical Allele Identifier: CA579785243

Gene: BLK

Linked Data

• dbSNP Id: rs1563409214
• gnomAD v2: 8-11349208-ACC-A
• gnomAD v3: 8-11491699-ACC-A
• gnomAD v4: 8-11491699-ACC-A
• MyVariant Identifiers: chr8:g.11349209_11349210del (hg19) ; chr8:g.11491700_11491701del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11491701_11491702del , CM000670.2:g.11491701_11491702del	GRCh38
NC_000008.10:g.11349210_11349211del , CM000670.1:g.11349210_11349211del	GRCh37
NC_000008.9:g.11386619_11386620del	NCBI36
NG_023543.1:g.2690_2691del
NG_023543.2:g.2690_2691del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696154.2:n.274+4534_274+4535del
ENST00000696154.1:c.-91+4534_-91+4535del	ENSP00000512445.1:n.-91+4534_-91+4535del
ENST00000645242.1:c.-91+4534_-91+4535del	ENSP00000494690.1:n.-91+4534_-91+4535del