Canonical Allele Identifier: CA605403654

Gene: SUOX

Linked Data

• dbSNP Id: rs1381290358
• gnomAD v2: 12-56398445-T-TGTCCA
• gnomAD v4: 12-56004661-T-TGTCCA
• MyVariant Identifiers: chr12:g.56398445_56398446insGTCCA (hg19) ; chr12:g.56004661_56004662insGTCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004665_56004669dup , CM000674.2:g.56004665_56004669dup	GRCh38
NC_000012.11:g.56398449_56398453dup , CM000674.1:g.56398449_56398453dup	GRCh37
NC_000012.10:g.54684716_54684720dup	NCBI36
NG_008136.1:g.12407_12411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1276_1280dup MANE Select	ENSP00000266971.3:p.Ala428SerfsTer13
ENST00000266971.7:c.1276_1280dup	ENSP00000266971.3:p.Ala428SerfsTer13
ENST00000356124.8:c.1276_1280dup	ENSP00000348440.4:p.Ala428SerfsTer13
ENST00000394109.7:c.1276_1280dup	ENSP00000377668.3:p.Ala428SerfsTer13
ENST00000394115.6:c.1276_1280dup	ENSP00000377674.2:p.Ala428SerfsTer13
ENST00000548274.5:c.1276_1280dup	ENSP00000450245.1:p.Ala428SerfsTer13
ENST00000550065.1:c.1276_1280dup	ENSP00000450264.1:p.Ala428SerfsTer13
ENST00000551841.6:c.*464_*468dup	ENSP00000449443.1:n.*464_*468dup
NM_000456.2:c.1276_1280dup	NP_000447.2:p.Ala428SerfsTer13
NM_001032386.1:c.1276_1280dup	NP_001027558.1:p.Ala428SerfsTer13
NM_001032387.1:c.1276_1280dup	NP_001027559.1:p.Ala428SerfsTer13
XM_005269112.1:c.1297_1301dup	XP_005269169.1:p.Ala435SerfsTer13
XM_017019905.2:c.1297_1301dup	XP_016875394.1:p.Ala435SerfsTer13
XM_017019906.1:c.1297_1301dup	XP_016875395.1:p.Ala435SerfsTer13
XM_017019907.2:c.1276_1280dup	XP_016875396.1:p.Ala428SerfsTer13
XM_017019908.1:c.1276_1280dup	XP_016875397.1:p.Ala428SerfsTer13
XM_024449167.1:c.1297_1301dup	XP_024304935.1:p.Ala435SerfsTer13
NM_001032386.2:c.1276_1280dup MANE Select	NP_001027558.1:p.Ala428SerfsTer13
NM_000456.3:c.1276_1280dup	NP_000447.2:p.Ala428SerfsTer13
NM_001032387.2:c.1276_1280dup	NP_001027559.1:p.Ala428SerfsTer13