Canonical Allele Identifier: CA2686158601
Gene: BLK HGNC NCBI

Linked Data

gnomAD v4: 8-11564234-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11564234G>A , CM000670.2:g.11564234G>A GRCh38
NC_000008.10:g.11421743G>A , CM000670.1:g.11421743G>A GRCh37
NC_000008.9:g.11459152G>A NCBI36
NG_023543.1:g.75223G>A
NG_023543.2:g.75223G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.1752G>A
ENST00000696154.1:c.*962G>A ENSP00000512445.1:n.*962G>A
ENST00000696155.1:n.528G>A
ENST00000259089.9:c.*126G>A MANE Select ENSP00000259089.4:n.*126G>A
ENST00000645242.1:c.*126G>A ENSP00000494690.1:n.*126G>A
ENST00000259089.8:c.*126G>A ENSP00000259089.4:n.*126G>A
ENST00000526097.1:n.1584G>A
ENST00000529894.1:c.*126G>A ENSP00000433663.1:n.*126G>A
NM_001715.2:c.*126G>A NP_001706.2:n.*126G>A
XM_011543824.1:c.*126G>A XP_011542126.1:n.*126G>A
XM_011543825.1:c.*126G>A XP_011542127.1:n.*126G>A
XM_011543826.1:c.*126G>A XP_011542128.1:n.*126G>A
XM_011543827.1:c.*126G>A XP_011542129.1:n.*126G>A
NM_001330465.1:c.*126G>A NP_001317394.1:n.*126G>A
XM_011543825.3:c.*126G>A XP_011542127.1:n.*126G>A
NM_001715.3:c.*126G>A MANE Select NP_001706.2:n.*126G>A
NM_001330465.2:c.*126G>A NP_001317394.1:n.*126G>A