Canonical Allele Identifier: CA2686158474

Gene: BLK

Linked Data

• gnomAD v4: 8-11563982-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563983dup , CM000670.2:g.11563983dup	GRCh38
NC_000008.10:g.11421492dup , CM000670.1:g.11421492dup	GRCh37
NC_000008.9:g.11458901dup	NCBI36
NG_023543.1:g.74972dup
NG_023543.2:g.74972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1501dup
ENST00000696154.1:c.*711dup	ENSP00000512445.1:n.*711dup
ENST00000696155.1:n.277dup
ENST00000259089.9:c.1393dup MANE Select	ENSP00000259089.4:p.Tyr465LeufsTer?
ENST00000645242.1:c.1180dup	ENSP00000494690.1:p.Tyr394LeufsTer?
ENST00000259089.8:c.1393dup	ENSP00000259089.4:p.Tyr465LeufsTer?
ENST00000526097.1:n.1333dup
ENST00000529894.1:c.1180dup	ENSP00000433663.1:p.Tyr394LeufsTer?
NM_001715.2:c.1393dup	NP_001706.2:p.Tyr465LeufsTer?
XM_011543824.1:c.1471dup	XP_011542126.1:p.Tyr491LeufsTer?
XM_011543825.1:c.1471dup	XP_011542127.1:p.Tyr491LeufsTer?
XM_011543826.1:c.1471dup	XP_011542128.1:p.Tyr491LeufsTer?
XM_011543827.1:c.1258dup	XP_011542129.1:p.Tyr420LeufsTer?
NM_001330465.1:c.1180dup	NP_001317394.1:p.Tyr394LeufsTer?
XM_011543825.3:c.1471dup	XP_011542127.1:p.Tyr491LeufsTer?
NM_001715.3:c.1393dup MANE Select	NP_001706.2:p.Tyr465LeufsTer?
NM_001330465.2:c.1180dup	NP_001317394.1:p.Tyr394LeufsTer?