Canonical Allele Identifier: CA2686158476

Gene: BLK

Linked Data

• gnomAD v4: 8-11564016-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564018del , CM000670.2:g.11564018del	GRCh38
NC_000008.10:g.11421527del , CM000670.1:g.11421527del	GRCh37
NC_000008.9:g.11458936del	NCBI36
NG_023543.1:g.75007del
NG_023543.2:g.75007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1536del
ENST00000696154.1:c.*746del	ENSP00000512445.1:n.*746del
ENST00000696155.1:n.312del
ENST00000259089.9:c.1428del MANE Select	ENSP00000259089.4:p.Glu478ArgfsTer?
ENST00000645242.1:c.1215del	ENSP00000494690.1:p.Glu407ArgfsTer?
ENST00000259089.8:c.1428del	ENSP00000259089.4:p.Glu478ArgfsTer?
ENST00000526097.1:n.1368del
ENST00000529894.1:c.1215del	ENSP00000433663.1:p.Glu407ArgfsTer?
NM_001715.2:c.1428del	NP_001706.2:p.Glu478ArgfsTer?
XM_011543824.1:c.1506del	XP_011542126.1:p.Glu504ArgfsTer?
XM_011543825.1:c.1506del	XP_011542127.1:p.Glu504ArgfsTer?
XM_011543826.1:c.1506del	XP_011542128.1:p.Glu504ArgfsTer?
XM_011543827.1:c.1293del	XP_011542129.1:p.Glu433ArgfsTer?
NM_001330465.1:c.1215del	NP_001317394.1:p.Glu407ArgfsTer?
XM_011543825.3:c.1506del	XP_011542127.1:p.Glu504ArgfsTer?
NM_001715.3:c.1428del MANE Select	NP_001706.2:p.Glu478ArgfsTer?
NM_001330465.2:c.1215del	NP_001317394.1:p.Glu407ArgfsTer?