Canonical Allele Identifier: CA2686158523

Gene: BLK

Linked Data

• gnomAD v4: 8-11564147-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564147C>A , CM000670.2:g.11564147C>A	GRCh38
NC_000008.10:g.11421656C>A , CM000670.1:g.11421656C>A	GRCh37
NC_000008.9:g.11459065C>A	NCBI36
NG_023543.1:g.75136C>A
NG_023543.2:g.75136C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1665C>A
ENST00000696154.1:c.*875C>A	ENSP00000512445.1:n.*875C>A
ENST00000696155.1:n.441C>A
ENST00000259089.9:c.*39C>A MANE Select	ENSP00000259089.4:n.*39C>A
ENST00000645242.1:c.*39C>A	ENSP00000494690.1:n.*39C>A
ENST00000259089.8:c.*39C>A	ENSP00000259089.4:n.*39C>A
ENST00000526097.1:n.1497C>A
ENST00000529894.1:c.*39C>A	ENSP00000433663.1:n.*39C>A
NM_001715.2:c.*39C>A	NP_001706.2:n.*39C>A
XM_011543824.1:c.*39C>A	XP_011542126.1:n.*39C>A
XM_011543825.1:c.*39C>A	XP_011542127.1:n.*39C>A
XM_011543826.1:c.*39C>A	XP_011542128.1:n.*39C>A
XM_011543827.1:c.*39C>A	XP_011542129.1:n.*39C>A
NM_001330465.1:c.*39C>A	NP_001317394.1:n.*39C>A
XM_011543825.3:c.*39C>A	XP_011542127.1:n.*39C>A
NM_001715.3:c.*39C>A MANE Select	NP_001706.2:n.*39C>A
NM_001330465.2:c.*39C>A	NP_001317394.1:n.*39C>A