Canonical Allele Identifier: CA2579093525

Gene: BLK

Linked Data

• gnomAD v4: 8-11564191-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564195del , CM000670.2:g.11564195del	GRCh38
NC_000008.10:g.11421704del , CM000670.1:g.11421704del	GRCh37
NC_000008.9:g.11459113del	NCBI36
NG_023543.1:g.75184del
NG_023543.2:g.75184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1713del
ENST00000696154.1:c.*923del	ENSP00000512445.1:n.*923del
ENST00000696155.1:n.489del
ENST00000259089.9:c.*87del MANE Select	ENSP00000259089.4:n.*87del
ENST00000645242.1:c.*87del	ENSP00000494690.1:n.*87del
ENST00000259089.8:c.*87del	ENSP00000259089.4:n.*87del
ENST00000526097.1:n.1545del
ENST00000529894.1:c.*87del	ENSP00000433663.1:n.*87del
NM_001715.2:c.*87del	NP_001706.2:n.*87del
XM_011543824.1:c.*87del	XP_011542126.1:n.*87del
XM_011543825.1:c.*87del	XP_011542127.1:n.*87del
XM_011543826.1:c.*87del	XP_011542128.1:n.*87del
XM_011543827.1:c.*87del	XP_011542129.1:n.*87del
NM_001330465.1:c.*87del	NP_001317394.1:n.*87del
XM_011543825.3:c.*87del	XP_011542127.1:n.*87del
NM_001715.3:c.*87del MANE Select	NP_001706.2:n.*87del
NM_001330465.2:c.*87del	NP_001317394.1:n.*87del