Canonical Allele Identifier: CA845990561

Gene: BLK

Linked Data

• ClinVar Variation Id: 1686504
• ClinVar RCV Id: RCV002247017
• dbSNP Id: rs1436601574
• gnomAD v3: 8-11564059-TG-T
• gnomAD v4: 8-11564059-TG-T
• MyVariant Identifiers: chr8:g.11421569del (hg19) ; chr8:g.11564060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564061del , CM000670.2:g.11564061del	GRCh38
NC_000008.10:g.11421570del , CM000670.1:g.11421570del	GRCh37
NC_000008.9:g.11458979del	NCBI36
NG_023543.1:g.75050del
NG_023543.2:g.75050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1579del
ENST00000696154.1:c.*789del	ENSP00000512445.1:n.*789del
ENST00000696155.1:n.355del
ENST00000259089.9:c.1471del MANE Select	ENSP00000259089.4:p.Glu491ArgfsTer?
ENST00000645242.1:c.1258del	ENSP00000494690.1:p.Glu420ArgfsTer?
ENST00000259089.8:c.1471del	ENSP00000259089.4:p.Glu491ArgfsTer?
ENST00000526097.1:n.1411del
ENST00000529894.1:c.1258del	ENSP00000433663.1:p.Glu420ArgfsTer?
NM_001715.2:c.1471del	NP_001706.2:p.Glu491ArgfsTer?
XM_011543824.1:c.1549del	XP_011542126.1:p.Glu517ArgfsTer?
XM_011543825.1:c.1549del	XP_011542127.1:p.Glu517ArgfsTer?
XM_011543826.1:c.1549del	XP_011542128.1:p.Glu517ArgfsTer?
XM_011543827.1:c.1336del	XP_011542129.1:p.Glu446ArgfsTer?
NM_001330465.1:c.1258del	NP_001317394.1:p.Glu420ArgfsTer?
XM_011543825.3:c.1549del	XP_011542127.1:p.Glu517ArgfsTer?
NM_001715.3:c.1471del MANE Select	NP_001706.2:p.Glu491ArgfsTer?
NM_001330465.2:c.1258del	NP_001317394.1:p.Glu420ArgfsTer?