Canonical Allele Identifier: CA2686158648

Gene: BLK

Linked Data

• gnomAD v4: 8-11564275-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564275C>G , CM000670.2:g.11564275C>G	GRCh38
NC_000008.10:g.11421784C>G , CM000670.1:g.11421784C>G	GRCh37
NC_000008.9:g.11459193C>G	NCBI36
NG_023543.1:g.75264C>G
NG_023543.2:g.75264C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1793C>G
ENST00000696154.1:c.*1003C>G	ENSP00000512445.1:n.*1003C>G
ENST00000696155.1:n.569C>G
ENST00000259089.9:c.*167C>G MANE Select	ENSP00000259089.4:n.*167C>G
ENST00000645242.1:c.*167C>G	ENSP00000494690.1:n.*167C>G
ENST00000259089.8:c.*167C>G	ENSP00000259089.4:n.*167C>G
ENST00000526097.1:n.1625C>G
ENST00000529894.1:c.*167C>G	ENSP00000433663.1:n.*167C>G
NM_001715.2:c.*167C>G	NP_001706.2:n.*167C>G
XM_011543824.1:c.*167C>G	XP_011542126.1:n.*167C>G
XM_011543825.1:c.*167C>G	XP_011542127.1:n.*167C>G
XM_011543826.1:c.*167C>G	XP_011542128.1:n.*167C>G
XM_011543827.1:c.*167C>G	XP_011542129.1:n.*167C>G
NM_001330465.1:c.*167C>G	NP_001317394.1:n.*167C>G
XM_011543825.3:c.*167C>G	XP_011542127.1:n.*167C>G
NM_001715.3:c.*167C>G MANE Select	NP_001706.2:n.*167C>G
NM_001330465.2:c.*167C>G	NP_001317394.1:n.*167C>G