Canonical Allele Identifier: CA172072703

Gene: BLK

Linked Data

• dbSNP Id: rs957601742
• gnomAD v3: 8-11547968-AC-A
• gnomAD v4: 8-11547968-AC-A
• MyVariant Identifiers: chr8:g.11405478del (hg19) ; chr8:g.11547969del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11547972del , CM000670.2:g.11547972del	GRCh38
NC_000008.10:g.11405481del , CM000670.1:g.11405481del	GRCh37
NC_000008.9:g.11442890del	NCBI36
NG_023543.1:g.58961del
NG_023543.2:g.58961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.327-60del
ENST00000696154.1:c.-38-60del	ENSP00000512445.1:n.-38-60del
ENST00000259089.9:c.176-60del MANE Select	ENSP00000259089.4:n.176-60del
ENST00000645242.1:c.-38-60del	ENSP00000494690.1:n.-38-60del
ENST00000259089.8:c.176-60del	ENSP00000259089.4:n.176-60del
ENST00000529894.1:c.-38-60del	ENSP00000433663.1:n.-38-60del
ENST00000533828.1:n.374-60del
NM_001715.2:c.176-60del	NP_001706.2:n.176-60del
XM_011543824.1:c.176-60del	XP_011542126.1:n.176-60del
XM_011543825.1:c.176-60del	XP_011542127.1:n.176-60del
XM_011543826.1:c.176-60del	XP_011542128.1:n.176-60del
XM_011543827.1:c.-38-60del	XP_011542129.1:n.-38-60del
XM_011543828.1:c.176-60del	XP_011542130.1:n.176-60del
XM_011543829.1:c.176-60del	XP_011542131.1:n.176-60del
NM_001330465.1:c.-38-60del	NP_001317394.1:n.-38-60del
XM_011543825.3:c.176-60del	XP_011542127.1:n.176-60del
XM_011543828.3:c.176-60del	XP_011542130.1:n.176-60del
XM_011543829.3:c.176-60del	XP_011542131.1:n.176-60del
NM_001715.3:c.176-60del MANE Select	NP_001706.2:n.176-60del
NM_001330465.2:c.-38-60del	NP_001317394.1:n.-38-60del