Canonical Allele Identifier: CA579785239

Gene: BLK

Linked Data

• dbSNP Id: rs1316665927
• gnomAD v2: 8-11349198-T-A
• gnomAD v3: 8-11491689-T-A
• gnomAD v4: 8-11491689-T-A
• MyVariant Identifiers: chr8:g.11349198T>A (hg19) ; chr8:g.11349198_11349222delinsATTTTCTAGTACCCAGAAACAAACA (hg19) ; chr8:g.11491689T>A (hg38) ; chr8:g.11491689_11491713delinsATTTTCTAGTACCCAGAAACAAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11491689T>A , CM000670.2:g.11491689T>A	GRCh38
NC_000008.10:g.11349198T>A , CM000670.1:g.11349198T>A	GRCh37
NC_000008.9:g.11386607T>A	NCBI36
NG_023543.1:g.2678T>A
NG_023543.2:g.2678T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696154.2:n.274+4522T>A
ENST00000696154.1:c.-91+4522T>A	ENSP00000512445.1:n.-91+4522T>A
ENST00000645242.1:c.-91+4522T>A	ENSP00000494690.1:n.-91+4522T>A