Canonical Allele Identifier: CA2574568093

Gene: STOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885538_68885541dup , CM000672.2:g.68885538_68885541dup	GRCh38
NC_000010.10:g.70645294_70645297dup , CM000672.1:g.70645294_70645297dup	GRCh37
NC_000010.9:g.70315300_70315303dup	NCBI36
NG_012975.1:g.63001_63004dup
NG_012975.2:g.63002_63005dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000298596.11:c.1742_1745dup MANE Select	ENSP00000298596.6:p.Phe583ProfsTer13
ENST00000642869.1:c.2078_2081dup	ENSP00000494558.1:p.Phe695ProfsTer13
ENST00000298596.10:c.1742_1745dup	ENSP00000298596.6:p.Phe583ProfsTer13
ENST00000399162.2:c.463+3428_463+3431dup	ENSP00000382115.2:n.463+3428_463+3431dup
ENST00000399165.8:c.663+1079_663+1082dup	ENSP00000382118.4:n.663+1079_663+1082dup
ENST00000399169.8:c.1742_1745dup	ENSP00000382121.4:p.Phe583ProfsTer13
NM_001130159.2:c.663+1079_663+1082dup	NP_001123631.1:n.663+1079_663+1082dup
NM_001130160.2:c.463+3428_463+3431dup	NP_001123632.1:n.463+3428_463+3431dup
NM_001130161.2:c.1742_1745dup	NP_001123633.1:p.Phe583ProfsTer13
NM_152709.4:c.1742_1745dup	NP_689922.3:p.Phe583ProfsTer13
XM_011539454.1:c.1412_1415dup	XP_011537756.1:p.Phe473ProfsTer13
XM_011539454.2:c.1412_1415dup	XP_011537756.1:p.Phe473ProfsTer13
NM_152709.5:c.1742_1745dup MANE Select	NP_689922.3:p.Phe583ProfsTer13
NM_001130161.3:c.1742_1745dup	NP_001123633.1:p.Phe583ProfsTer13
NM_001130159.3:c.663+1079_663+1082dup	NP_001123631.1:n.663+1079_663+1082dup
NM_001130160.3:c.463+3428_463+3431dup	NP_001123632.1:n.463+3428_463+3431dup
NM_001130161.4:c.1742_1745dup	NP_001123633.1:p.Phe583ProfsTer13