Canonical Allele Identifier: CA2575186064

Gene: SUOX

Linked Data

• ClinVar Variation Id: 2849890
• ClinVar RCV Id: RCV003640233
• gnomAD v4: 12-56004708-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004709_56004710del , CM000674.2:g.56004709_56004710del	GRCh38
NC_000012.11:g.56398493_56398494del , CM000674.1:g.56398493_56398494del	GRCh37
NC_000012.10:g.54684760_54684761del	NCBI36
NG_008136.1:g.12451_12452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1320_1321del MANE Select	ENSP00000266971.3:p.Glu442GlyfsTer?
ENST00000266971.7:c.1320_1321del	ENSP00000266971.3:p.Glu442GlyfsTer?
ENST00000356124.8:c.1320_1321del	ENSP00000348440.4:p.Glu442GlyfsTer?
ENST00000394109.7:c.1320_1321del	ENSP00000377668.3:p.Glu442GlyfsTer?
ENST00000394115.6:c.1320_1321del	ENSP00000377674.2:p.Glu442GlyfsTer?
ENST00000548274.5:c.1320_1321del	ENSP00000450245.1:p.Glu442GlyfsTer?
ENST00000550065.1:c.1320_1321del	ENSP00000450264.1:p.Glu442GlyfsTer?
NM_000456.2:c.1320_1321del	NP_000447.2:p.Glu442GlyfsTer?
NM_001032386.1:c.1320_1321del	NP_001027558.1:p.Glu442GlyfsTer?
NM_001032387.1:c.1320_1321del	NP_001027559.1:p.Glu442GlyfsTer?
XM_005269112.1:c.1341_1342del	XP_005269169.1:p.Glu449GlyfsTer?
XM_017019905.2:c.1341_1342del	XP_016875394.1:p.Glu449GlyfsTer?
XM_017019906.1:c.1341_1342del	XP_016875395.1:p.Glu449GlyfsTer?
XM_017019907.2:c.1320_1321del	XP_016875396.1:p.Glu442GlyfsTer?
XM_017019908.1:c.1320_1321del	XP_016875397.1:p.Glu442GlyfsTer?
XM_024449167.1:c.1341_1342del	XP_024304935.1:p.Glu449GlyfsTer?
NM_001032386.2:c.1320_1321del MANE Select	NP_001027558.1:p.Glu442GlyfsTer?
NM_000456.3:c.1320_1321del	NP_000447.2:p.Glu442GlyfsTer?
NM_001032387.2:c.1320_1321del	NP_001027559.1:p.Glu442GlyfsTer?