Canonical Allele Identifier: CA2686158815

Gene: BLK

Linked Data

• gnomAD v4: 8-11564481-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564481C>A , CM000670.2:g.11564481C>A	GRCh38
NC_000008.10:g.11421990C>A , CM000670.1:g.11421990C>A	GRCh37
NC_000008.9:g.11459399C>A	NCBI36
NG_023543.1:g.75470C>A
NG_023543.2:g.75470C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1999C>A
ENST00000696154.1:c.*1209C>A	ENSP00000512445.1:n.*1209C>A
ENST00000259089.9:c.*373C>A MANE Select	ENSP00000259089.4:n.*373C>A
ENST00000645242.1:c.*373C>A	ENSP00000494690.1:n.*373C>A
ENST00000259089.8:c.*373C>A	ENSP00000259089.4:n.*373C>A
ENST00000526097.1:n.1831C>A
ENST00000529894.1:c.*373C>A	ENSP00000433663.1:n.*373C>A
NM_001715.2:c.*373C>A	NP_001706.2:n.*373C>A
XM_011543824.1:c.*373C>A	XP_011542126.1:n.*373C>A
XM_011543825.1:c.*373C>A	XP_011542127.1:n.*373C>A
XM_011543826.1:c.*373C>A	XP_011542128.1:n.*373C>A
XM_011543827.1:c.*373C>A	XP_011542129.1:n.*373C>A
NM_001330465.1:c.*373C>A	NP_001317394.1:n.*373C>A
XM_011543825.3:c.*373C>A	XP_011542127.1:n.*373C>A
NM_001715.3:c.*373C>A MANE Select	NP_001706.2:n.*373C>A
NM_001330465.2:c.*373C>A	NP_001317394.1:n.*373C>A