Canonical Allele Identifier: CA1110709302

Gene: BLK

Linked Data

• dbSNP Id: rs1801616479
• gnomAD v3: 8-11564085-C-CGGCA
• gnomAD v4: 8-11564085-C-CGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564087_11564090dup , CM000670.2:g.11564087_11564090dup	GRCh38
NC_000008.10:g.11421596_11421599dup , CM000670.1:g.11421596_11421599dup	GRCh37
NC_000008.9:g.11459005_11459008dup	NCBI36
NG_023543.1:g.75076_75079dup
NG_023543.2:g.75076_75079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1605_1608dup
ENST00000696154.1:c.*815_*818dup	ENSP00000512445.1:n.*815_*818dup
ENST00000696155.1:n.381_384dup
ENST00000259089.9:c.1497_1500dup MANE Select	ENSP00000259089.4:p.Tyr501AlafsTer?
ENST00000645242.1:c.1284_1287dup	ENSP00000494690.1:p.Tyr430AlafsTer?
ENST00000259089.8:c.1497_1500dup	ENSP00000259089.4:p.Tyr501AlafsTer?
ENST00000526097.1:n.1437_1440dup
ENST00000529894.1:c.1284_1287dup	ENSP00000433663.1:p.Tyr430AlafsTer?
NM_001715.2:c.1497_1500dup	NP_001706.2:p.Tyr501AlafsTer?
XM_011543824.1:c.1575_1578dup	XP_011542126.1:p.Tyr527AlafsTer?
XM_011543825.1:c.1575_1578dup	XP_011542127.1:p.Tyr527AlafsTer?
XM_011543826.1:c.1575_1578dup	XP_011542128.1:p.Tyr527AlafsTer?
XM_011543827.1:c.1362_1365dup	XP_011542129.1:p.Tyr456AlafsTer?
NM_001330465.1:c.1284_1287dup	NP_001317394.1:p.Tyr430AlafsTer?
XM_011543825.3:c.1575_1578dup	XP_011542127.1:p.Tyr527AlafsTer?
NM_001715.3:c.1497_1500dup MANE Select	NP_001706.2:p.Tyr501AlafsTer?
NM_001330465.2:c.1284_1287dup	NP_001317394.1:p.Tyr430AlafsTer?