Canonical Allele Identifier: CA2686158915

Gene: BLK

Linked Data

• gnomAD v4: 8-11564580-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564580A>C , CM000670.2:g.11564580A>C	GRCh38
NC_000008.10:g.11422089A>C , CM000670.1:g.11422089A>C	GRCh37
NC_000008.9:g.11459498A>C	NCBI36
NG_023543.1:g.75569A>C
NG_023543.2:g.75569A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.2098A>C
ENST00000696154.1:c.*1308A>C	ENSP00000512445.1:n.*1308A>C
ENST00000259089.9:c.*472A>C MANE Select	ENSP00000259089.4:n.*472A>C
ENST00000645242.1:c.*472A>C	ENSP00000494690.1:n.*472A>C
ENST00000259089.8:c.*472A>C	ENSP00000259089.4:n.*472A>C
ENST00000526097.1:n.1930A>C
NM_001715.2:c.*472A>C	NP_001706.2:n.*472A>C
XM_011543824.1:c.*472A>C	XP_011542126.1:n.*472A>C
XM_011543825.1:c.*472A>C	XP_011542127.1:n.*472A>C
XM_011543826.1:c.*472A>C	XP_011542128.1:n.*472A>C
XM_011543827.1:c.*472A>C	XP_011542129.1:n.*472A>C
NM_001330465.1:c.*472A>C	NP_001317394.1:n.*472A>C
XM_011543825.3:c.*472A>C	XP_011542127.1:n.*472A>C
NM_001715.3:c.*472A>C MANE Select	NP_001706.2:n.*472A>C
NM_001330465.2:c.*472A>C	NP_001317394.1:n.*472A>C