Canonical Allele Identifier: CA579799524

Gene: BLK

Linked Data

• dbSNP Id: rs1165349046
• gnomAD v2: 8-11421997-G-GC
• gnomAD v4: 8-11564488-G-GC
• MyVariant Identifiers: chr8:g.11421997_11421998insC (hg19) ; chr8:g.11564488_11564489insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564492dup , CM000670.2:g.11564492dup	GRCh38
NC_000008.10:g.11422001dup , CM000670.1:g.11422001dup	GRCh37
NC_000008.9:g.11459410dup	NCBI36
NG_023543.1:g.75481dup
NG_023543.2:g.75481dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.2010dup
ENST00000696154.1:c.*1220dup	ENSP00000512445.1:n.*1220dup
ENST00000259089.9:c.*384dup MANE Select	ENSP00000259089.4:n.*384dup
ENST00000645242.1:c.*384dup	ENSP00000494690.1:n.*384dup
ENST00000259089.8:c.*384dup	ENSP00000259089.4:n.*384dup
ENST00000526097.1:n.1842dup
ENST00000529894.1:c.*384dup	ENSP00000433663.1:n.*384dup
NM_001715.2:c.*384dup	NP_001706.2:n.*384dup
XM_011543824.1:c.*384dup	XP_011542126.1:n.*384dup
XM_011543825.1:c.*384dup	XP_011542127.1:n.*384dup
XM_011543826.1:c.*384dup	XP_011542128.1:n.*384dup
XM_011543827.1:c.*384dup	XP_011542129.1:n.*384dup
NM_001330465.1:c.*384dup	NP_001317394.1:n.*384dup
XM_011543825.3:c.*384dup	XP_011542127.1:n.*384dup
NM_001715.3:c.*384dup MANE Select	NP_001706.2:n.*384dup
NM_001330465.2:c.*384dup	NP_001317394.1:n.*384dup