Canonical Allele Identifier: CA2686158477

Gene: BLK

Linked Data

• gnomAD v4: 8-11564030-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564033del , CM000670.2:g.11564033del	GRCh38
NC_000008.10:g.11421542del , CM000670.1:g.11421542del	GRCh37
NC_000008.9:g.11458951del	NCBI36
NG_023543.1:g.75022del
NG_023543.2:g.75022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1551del
ENST00000696154.1:c.*761del	ENSP00000512445.1:n.*761del
ENST00000696155.1:n.327del
ENST00000259089.9:c.1443del MANE Select	ENSP00000259089.4:p.Thr482ProfsTer?
ENST00000645242.1:c.1230del	ENSP00000494690.1:p.Thr411ProfsTer?
ENST00000259089.8:c.1443del	ENSP00000259089.4:p.Thr482ProfsTer?
ENST00000526097.1:n.1383del
ENST00000529894.1:c.1230del	ENSP00000433663.1:p.Thr411ProfsTer?
NM_001715.2:c.1443del	NP_001706.2:p.Thr482ProfsTer?
XM_011543824.1:c.1521del	XP_011542126.1:p.Thr508ProfsTer?
XM_011543825.1:c.1521del	XP_011542127.1:p.Thr508ProfsTer?
XM_011543826.1:c.1521del	XP_011542128.1:p.Thr508ProfsTer?
XM_011543827.1:c.1308del	XP_011542129.1:p.Thr437ProfsTer?
NM_001330465.1:c.1230del	NP_001317394.1:p.Thr411ProfsTer?
XM_011543825.3:c.1521del	XP_011542127.1:p.Thr508ProfsTer?
NM_001715.3:c.1443del MANE Select	NP_001706.2:p.Thr482ProfsTer?
NM_001330465.2:c.1230del	NP_001317394.1:p.Thr411ProfsTer?