Canonical Allele Identifier: CA172067336

Gene: BLK

Linked Data

• dbSNP Id: rs564711973
• gnomAD v2: 8-11349198-TTTTTCTAGTACCCAGAAACAAACA-T
• gnomAD v3: 8-11491689-TTTTTCTAGTACCCAGAAACAAACA-T
• gnomAD v4: 8-11491689-TTTTTCTAGTACCCAGAAACAAACA-T
• MyVariant Identifiers: chr8:g.11349199_11349222del (hg19) ; chr8:g.11491690_11491713del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11491708_11491731del , CM000670.2:g.11491708_11491731del	GRCh38
NC_000008.10:g.11349217_11349240del , CM000670.1:g.11349217_11349240del	GRCh37
NC_000008.9:g.11386626_11386649del	NCBI36
NG_023543.1:g.2697_2720del
NG_023543.2:g.2697_2720del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696154.2:n.274+4541_274+4564del
ENST00000696154.1:c.-91+4541_-91+4564del	ENSP00000512445.1:n.-91+4541_-91+4564del
ENST00000645242.1:c.-91+4541_-91+4564del	ENSP00000494690.1:n.-91+4541_-91+4564del