Canonical Allele Identifier: CA2580086511

Gene: SUOX

Linked Data

• ClinVar Variation Id: 2015056
• ClinVar RCV Id: RCV002846164

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004737_56004738delinsCA , CM000674.2:g.56004737_56004738delinsCA	GRCh38
NC_000012.11:g.56398521_56398522delinsCA , CM000674.1:g.56398521_56398522delinsCA	GRCh37
NC_000012.10:g.54684788_54684789delinsCA	NCBI36
NG_008136.1:g.12479_12480delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1348_1349delinsCA MANE Select	ENSP00000266971.3:p.Trp450Gln
ENST00000266971.7:c.1348_1349delinsCA	ENSP00000266971.3:p.Trp450Gln
ENST00000356124.8:c.1348_1349delinsCA	ENSP00000348440.4:p.Trp450Gln
ENST00000394109.7:c.1348_1349delinsCA	ENSP00000377668.3:p.Trp450Gln
ENST00000394115.6:c.1348_1349delinsCA	ENSP00000377674.2:p.Trp450Gln
ENST00000548274.5:c.1348_1349delinsCA	ENSP00000450245.1:p.Trp450Gln
ENST00000550065.1:c.1348_1349delinsCA	ENSP00000450264.1:p.Trp450Gln
NM_000456.2:c.1348_1349delinsCA	NP_000447.2:p.Trp450Gln
NM_001032386.1:c.1348_1349delinsCA	NP_001027558.1:p.Trp450Gln
NM_001032387.1:c.1348_1349delinsCA	NP_001027559.1:p.Trp450Gln
XM_005269112.1:c.1369_1370delinsCA	XP_005269169.1:p.Trp457Gln
XM_017019905.2:c.1369_1370delinsCA	XP_016875394.1:p.Trp457Gln
XM_017019906.1:c.1369_1370delinsCA	XP_016875395.1:p.Trp457Gln
XM_017019907.2:c.1348_1349delinsCA	XP_016875396.1:p.Trp450Gln
XM_017019908.1:c.1348_1349delinsCA	XP_016875397.1:p.Trp450Gln
XM_024449167.1:c.1369_1370delinsCA	XP_024304935.1:p.Trp457Gln
NM_001032386.2:c.1348_1349delinsCA MANE Select	NP_001027558.1:p.Trp450Gln
NM_000456.3:c.1348_1349delinsCA	NP_000447.2:p.Trp450Gln
NM_001032387.2:c.1348_1349delinsCA	NP_001027559.1:p.Trp450Gln