Canonical Allele Identifier: CA2686158717

Gene: BLK

Linked Data

• gnomAD v4: 8-11564355-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564355G>T , CM000670.2:g.11564355G>T	GRCh38
NC_000008.10:g.11421864G>T , CM000670.1:g.11421864G>T	GRCh37
NC_000008.9:g.11459273G>T	NCBI36
NG_023543.1:g.75344G>T
NG_023543.2:g.75344G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696154.2:n.1873G>T
ENST00000696154.1:c.*1083G>T	ENSP00000512445.1:n.*1083G>T
ENST00000259089.9:c.*247G>T MANE Select	ENSP00000259089.4:n.*247G>T
ENST00000645242.1:c.*247G>T	ENSP00000494690.1:n.*247G>T
ENST00000259089.8:c.*247G>T	ENSP00000259089.4:n.*247G>T
ENST00000526097.1:n.1705G>T
ENST00000529894.1:c.*247G>T	ENSP00000433663.1:n.*247G>T
NM_001715.2:c.*247G>T	NP_001706.2:n.*247G>T
XM_011543824.1:c.*247G>T	XP_011542126.1:n.*247G>T
XM_011543825.1:c.*247G>T	XP_011542127.1:n.*247G>T
XM_011543826.1:c.*247G>T	XP_011542128.1:n.*247G>T
XM_011543827.1:c.*247G>T	XP_011542129.1:n.*247G>T
NM_001330465.1:c.*247G>T	NP_001317394.1:n.*247G>T
XM_011543825.3:c.*247G>T	XP_011542127.1:n.*247G>T
NM_001715.3:c.*247G>T MANE Select	NP_001706.2:n.*247G>T
NM_001330465.2:c.*247G>T	NP_001317394.1:n.*247G>T