Canonical Allele Identifier: CA4630548

Gene: BLK

Linked Data

• dbSNP Id: rs750012928
• ExAC: 8:11421661 GACCCCGACT / G
• gnomAD v4: 8-11564152-GACCCCGACT-G
• MyVariant Identifiers: chr8:g.11421662_11421670del (hg19) ; chr8:g.11564153_11564161del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564153_11564161del , CM000670.2:g.11564153_11564161del	GRCh38
NC_000008.10:g.11421662_11421670del , CM000670.1:g.11421662_11421670del	GRCh37
NC_000008.9:g.11459071_11459079del	NCBI36
NG_023543.1:g.75142_75150del
NG_023543.2:g.75142_75150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1671_1679del
ENST00000696154.1:c.*881_*889del	ENSP00000512445.1:n.*881_*889del
ENST00000696155.1:n.447_455del
ENST00000259089.9:c.*45_*53del MANE Select	ENSP00000259089.4:n.*45_*53del
ENST00000645242.1:c.*45_*53del	ENSP00000494690.1:n.*45_*53del
ENST00000259089.8:c.*45_*53del	ENSP00000259089.4:n.*45_*53del
ENST00000526097.1:n.1503_1511del
ENST00000529894.1:c.*45_*53del	ENSP00000433663.1:n.*45_*53del
NM_001715.2:c.*45_*53del	NP_001706.2:n.*45_*53del
XM_011543824.1:c.*45_*53del	XP_011542126.1:n.*45_*53del
XM_011543825.1:c.*45_*53del	XP_011542127.1:n.*45_*53del
XM_011543826.1:c.*45_*53del	XP_011542128.1:n.*45_*53del
XM_011543827.1:c.*45_*53del	XP_011542129.1:n.*45_*53del
NM_001330465.1:c.*45_*53del	NP_001317394.1:n.*45_*53del
XM_011543825.3:c.*45_*53del	XP_011542127.1:n.*45_*53del
NM_001715.3:c.*45_*53del MANE Select	NP_001706.2:n.*45_*53del
NM_001330465.2:c.*45_*53del	NP_001317394.1:n.*45_*53del