Canonical Allele Identifier: CA2686158478

Gene: BLK

Linked Data

• gnomAD v4: 8-11564042-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564044del , CM000670.2:g.11564044del	GRCh38
NC_000008.10:g.11421553del , CM000670.1:g.11421553del	GRCh37
NC_000008.9:g.11458962del	NCBI36
NG_023543.1:g.75033del
NG_023543.2:g.75033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1562del
ENST00000696154.1:c.*772del	ENSP00000512445.1:n.*772del
ENST00000696155.1:n.338del
ENST00000259089.9:c.1454del MANE Select	ENSP00000259089.4:p.Phe485SerfsTer?
ENST00000645242.1:c.1241del	ENSP00000494690.1:p.Phe414SerfsTer?
ENST00000259089.8:c.1454del	ENSP00000259089.4:p.Phe485SerfsTer?
ENST00000526097.1:n.1394del
ENST00000529894.1:c.1241del	ENSP00000433663.1:p.Phe414SerfsTer?
NM_001715.2:c.1454del	NP_001706.2:p.Phe485SerfsTer?
XM_011543824.1:c.1532del	XP_011542126.1:p.Phe511SerfsTer?
XM_011543825.1:c.1532del	XP_011542127.1:p.Phe511SerfsTer?
XM_011543826.1:c.1532del	XP_011542128.1:p.Phe511SerfsTer?
XM_011543827.1:c.1319del	XP_011542129.1:p.Phe440SerfsTer?
NM_001330465.1:c.1241del	NP_001317394.1:p.Phe414SerfsTer?
XM_011543825.3:c.1532del	XP_011542127.1:p.Phe511SerfsTer?
NM_001715.3:c.1454del MANE Select	NP_001706.2:p.Phe485SerfsTer?
NM_001330465.2:c.1241del	NP_001317394.1:p.Phe414SerfsTer?