Canonical Allele Identifier: CA2502831658

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563997del , CM000670.2:g.11563997del	GRCh38
NC_000008.10:g.11421506del , CM000670.1:g.11421506del	GRCh37
NC_000008.9:g.11458915del	NCBI36
NG_023543.1:g.74986del
NG_023543.2:g.74986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1515del
ENST00000696154.1:c.*725del	ENSP00000512445.1:n.*725del
ENST00000696155.1:n.291del
ENST00000259089.9:c.1407del MANE Select	ENSP00000259089.4:p.Ile469MetfsTer?
ENST00000645242.1:c.1194del	ENSP00000494690.1:p.Ile398MetfsTer?
ENST00000259089.8:c.1407del	ENSP00000259089.4:p.Ile469MetfsTer?
ENST00000526097.1:n.1347del
ENST00000529894.1:c.1194del	ENSP00000433663.1:p.Ile398MetfsTer?
NM_001715.2:c.1407del	NP_001706.2:p.Ile469MetfsTer?
XM_011543824.1:c.1485del	XP_011542126.1:p.Ile495MetfsTer?
XM_011543825.1:c.1485del	XP_011542127.1:p.Ile495MetfsTer?
XM_011543826.1:c.1485del	XP_011542128.1:p.Ile495MetfsTer?
XM_011543827.1:c.1272del	XP_011542129.1:p.Ile424MetfsTer?
NM_001330465.1:c.1194del	NP_001317394.1:p.Ile398MetfsTer?
XM_011543825.3:c.1485del	XP_011542127.1:p.Ile495MetfsTer?
NM_001715.3:c.1407del MANE Select	NP_001706.2:p.Ile469MetfsTer?
NM_001330465.2:c.1194del	NP_001317394.1:p.Ile398MetfsTer?