Canonical Allele Identifier: CA1917549983

Gene: STOX1

Linked Data

• dbSNP Id: rs1840920195

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885424_68885425del , CM000672.2:g.68885424_68885425del	GRCh38
NC_000010.10:g.70645180_70645181del , CM000672.1:g.70645180_70645181del	GRCh37
NC_000010.9:g.70315186_70315187del	NCBI36
NG_012975.1:g.62887_62888del
NG_012975.2:g.62888_62889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298596.11:c.1628_1629del MANE Select	ENSP00000298596.6:p.Phe543Ter
ENST00000642869.1:c.1964_1965del	ENSP00000494558.1:p.Phe655Ter
ENST00000298596.10:c.1628_1629del	ENSP00000298596.6:p.Phe543Ter
ENST00000399162.2:c.463+3314_463+3315del	ENSP00000382115.2:n.463+3314_463+3315del
ENST00000399165.8:c.663+965_663+966del	ENSP00000382118.4:n.663+965_663+966del
ENST00000399169.8:c.1628_1629del	ENSP00000382121.4:p.Phe543Ter
NM_001130159.2:c.663+965_663+966del	NP_001123631.1:n.663+965_663+966del
NM_001130160.2:c.463+3314_463+3315del	NP_001123632.1:n.463+3314_463+3315del
NM_001130161.2:c.1628_1629del	NP_001123633.1:p.Phe543Ter
NM_152709.4:c.1628_1629del	NP_689922.3:p.Phe543Ter
XM_011539454.1:c.1298_1299del	XP_011537756.1:p.Phe433Ter
XM_011539454.2:c.1298_1299del	XP_011537756.1:p.Phe433Ter
NM_152709.5:c.1628_1629del MANE Select	NP_689922.3:p.Phe543Ter
NM_001130161.3:c.1628_1629del	NP_001123633.1:p.Phe543Ter
NM_001130159.3:c.663+965_663+966del	NP_001123631.1:n.663+965_663+966del
NM_001130160.3:c.463+3314_463+3315del	NP_001123632.1:n.463+3314_463+3315del
NM_001130161.4:c.1628_1629del	NP_001123633.1:p.Phe543Ter