Canonical Allele Identifier: CA2573142554

Gene: BLK

Linked Data

• ClinVar Variation Id: 1491674
• ClinVar RCV Id: RCV001988815
• dbSNP Id: rs2117612793

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564018_11564022dup , CM000670.2:g.11564018_11564022dup	GRCh38
NC_000008.10:g.11421527_11421531dup , CM000670.1:g.11421527_11421531dup	GRCh37
NC_000008.9:g.11458936_11458940dup	NCBI36
NG_023543.1:g.75007_75011dup
NG_023543.2:g.75007_75011dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1536_1540dup
ENST00000696154.1:c.*746_*750dup	ENSP00000512445.1:n.*746_*750dup
ENST00000696155.1:n.312_316dup
ENST00000259089.9:c.1428_1432dup MANE Select	ENSP00000259089.4:p.Glu478GlyfsTer?
ENST00000645242.1:c.1215_1219dup	ENSP00000494690.1:p.Glu407GlyfsTer?
ENST00000259089.8:c.1428_1432dup	ENSP00000259089.4:p.Glu478GlyfsTer?
ENST00000526097.1:n.1368_1372dup
ENST00000529894.1:c.1215_1219dup	ENSP00000433663.1:p.Glu407GlyfsTer?
NM_001715.2:c.1428_1432dup	NP_001706.2:p.Glu478GlyfsTer?
XM_011543824.1:c.1506_1510dup	XP_011542126.1:p.Glu504GlyfsTer?
XM_011543825.1:c.1506_1510dup	XP_011542127.1:p.Glu504GlyfsTer?
XM_011543826.1:c.1506_1510dup	XP_011542128.1:p.Glu504GlyfsTer?
XM_011543827.1:c.1293_1297dup	XP_011542129.1:p.Glu433GlyfsTer?
NM_001330465.1:c.1215_1219dup	NP_001317394.1:p.Glu407GlyfsTer?
XM_011543825.3:c.1506_1510dup	XP_011542127.1:p.Glu504GlyfsTer?
NM_001715.3:c.1428_1432dup MANE Select	NP_001706.2:p.Glu478GlyfsTer?
NM_001330465.2:c.1215_1219dup	NP_001317394.1:p.Glu407GlyfsTer?