Canonical Allele Identifier: CA579785241

Gene: BLK

Linked Data

• dbSNP Id: rs1341857263
• gnomAD v2: 8-11349205-AGT-A
• gnomAD v3: 8-11491696-AGT-A
• gnomAD v4: 8-11491696-AGT-A
• MyVariant Identifiers: chr8:g.11349206_11349207del (hg19) ; chr8:g.11491697_11491698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11491697_11491698del , CM000670.2:g.11491697_11491698del	GRCh38
NC_000008.10:g.11349206_11349207del , CM000670.1:g.11349206_11349207del	GRCh37
NC_000008.9:g.11386615_11386616del	NCBI36
NG_023543.1:g.2686_2687del
NG_023543.2:g.2686_2687del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696154.2:n.274+4530_274+4531del
ENST00000696154.1:c.-91+4530_-91+4531del	ENSP00000512445.1:n.-91+4530_-91+4531del
ENST00000645242.1:c.-91+4530_-91+4531del	ENSP00000494690.1:n.-91+4530_-91+4531del