Canonical Allele Identifier: CA2564157794

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564000_11564001del , CM000670.2:g.11564000_11564001del	GRCh38
NC_000008.10:g.11421509_11421510del , CM000670.1:g.11421509_11421510del	GRCh37
NC_000008.9:g.11458918_11458919del	NCBI36
NG_023543.1:g.74989_74990del
NG_023543.2:g.74989_74990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1518_1519del
ENST00000696154.1:c.*728_*729del	ENSP00000512445.1:n.*728_*729del
ENST00000696155.1:n.294_295del
ENST00000259089.9:c.1410_1411del MANE Select	ENSP00000259089.4:p.Glu471ValfsTer?
ENST00000645242.1:c.1197_1198del	ENSP00000494690.1:p.Glu400ValfsTer?
ENST00000259089.8:c.1410_1411del	ENSP00000259089.4:p.Glu471ValfsTer?
ENST00000526097.1:n.1350_1351del
ENST00000529894.1:c.1197_1198del	ENSP00000433663.1:p.Glu400ValfsTer?
NM_001715.2:c.1410_1411del	NP_001706.2:p.Glu471ValfsTer?
XM_011543824.1:c.1488_1489del	XP_011542126.1:p.Glu497ValfsTer?
XM_011543825.1:c.1488_1489del	XP_011542127.1:p.Glu497ValfsTer?
XM_011543826.1:c.1488_1489del	XP_011542128.1:p.Glu497ValfsTer?
XM_011543827.1:c.1275_1276del	XP_011542129.1:p.Glu426ValfsTer?
NM_001330465.1:c.1197_1198del	NP_001317394.1:p.Glu400ValfsTer?
XM_011543825.3:c.1488_1489del	XP_011542127.1:p.Glu497ValfsTer?
NM_001715.3:c.1410_1411del MANE Select	NP_001706.2:p.Glu471ValfsTer?
NM_001330465.2:c.1197_1198del	NP_001317394.1:p.Glu400ValfsTer?