Canonical Allele Identifier: CA4630510

Gene: BLK

Linked Data

• dbSNP Id: rs761597531
• ExAC: 8:11421485 C / CGAGCT
• gnomAD v2: 8-11421485-C-CGAGCT
• gnomAD v4: 8-11563976-C-CGAGCT
• MyVariant Identifiers: chr8:g.11421485_11421486insGAGCT (hg19) ; chr8:g.11563976_11563977insGAGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563978_11563982dup , CM000670.2:g.11563978_11563982dup	GRCh38
NC_000008.10:g.11421487_11421491dup , CM000670.1:g.11421487_11421491dup	GRCh37
NC_000008.9:g.11458896_11458900dup	NCBI36
NG_023543.1:g.74967_74971dup
NG_023543.2:g.74967_74971dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1496_1500dup
ENST00000696154.1:c.*706_*710dup	ENSP00000512445.1:n.*706_*710dup
ENST00000696155.1:n.272_276dup
ENST00000259089.9:c.1388_1392dup MANE Select	ENSP00000259089.4:p.Tyr465SerfsTer?
ENST00000645242.1:c.1175_1179dup	ENSP00000494690.1:p.Tyr394SerfsTer?
ENST00000259089.8:c.1388_1392dup	ENSP00000259089.4:p.Tyr465SerfsTer?
ENST00000526097.1:n.1328_1332dup
ENST00000529894.1:c.1175_1179dup	ENSP00000433663.1:p.Tyr394SerfsTer?
NM_001715.2:c.1388_1392dup	NP_001706.2:p.Tyr465SerfsTer?
XM_011543824.1:c.1466_1470dup	XP_011542126.1:p.Tyr491SerfsTer?
XM_011543825.1:c.1466_1470dup	XP_011542127.1:p.Tyr491SerfsTer?
XM_011543826.1:c.1466_1470dup	XP_011542128.1:p.Tyr491SerfsTer?
XM_011543827.1:c.1253_1257dup	XP_011542129.1:p.Tyr420SerfsTer?
NM_001330465.1:c.1175_1179dup	NP_001317394.1:p.Tyr394SerfsTer?
XM_011543825.3:c.1466_1470dup	XP_011542127.1:p.Tyr491SerfsTer?
NM_001715.3:c.1388_1392dup MANE Select	NP_001706.2:p.Tyr465SerfsTer?
NM_001330465.2:c.1175_1179dup	NP_001317394.1:p.Tyr394SerfsTer?