Canonical Allele Identifier: CA605434335

Gene: SUOX

Linked Data

• dbSNP Id: rs1246226915
• gnomAD v2: 12-56397499-T-TGTTATCCCAGCACTATAGGAGGCCAAGGTGGG
• MyVariant Identifiers: chr12:g.56397499_56397500insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG (hg19) ; chr12:g.56003715_56003716insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56003715_56003716insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG , CM000674.2:g.56003715_56003716insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	GRCh38
NC_000012.11:g.56397499_56397500insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG , CM000674.1:g.56397499_56397500insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	GRCh37
NC_000012.10:g.54683766_54683767insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	NCBI36
NG_008136.1:g.11457_11458insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG MANE Select	ENSP00000266971.3:p.Phe109LeufsTer28
ENST00000266971.7:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	ENSP00000266971.3:p.Phe109LeufsTer28
ENST00000356124.8:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	ENSP00000348440.4:p.Phe109LeufsTer28
ENST00000394109.7:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	ENSP00000377668.3:p.Phe109LeufsTer28
ENST00000394115.6:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	ENSP00000377674.2:p.Phe109LeufsTer28
ENST00000546712.1:n.817_818insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG
ENST00000546833.5:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	ENSP00000449872.1:p.Phe109LeufsTer28
ENST00000548274.5:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	ENSP00000450245.1:p.Phe109LeufsTer28
ENST00000550065.1:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	ENSP00000450264.1:p.Phe109LeufsTer28
ENST00000550340.5:n.211_212insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG
ENST00000550478.5:n.405_406insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG
ENST00000551698.5:n.348_349insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG
ENST00000551841.6:c.267+59_267+60insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	ENSP00000449443.1:n.267+59_267+60insGTTATCCCAGCACTATAGGAGGCCA...
ENST00000552258.5:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	ENSP00000450049.1:p.Phe109LeufsTer?
ENST00000552363.5:n.179_180insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG
NM_000456.2:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	NP_000447.2:p.Phe109LeufsTer28
NM_001032386.1:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	NP_001027558.1:p.Phe109LeufsTer28
NM_001032387.1:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	NP_001027559.1:p.Phe109LeufsTer28
XM_005269112.1:c.347_348insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	XP_005269169.1:p.Phe116LeufsTer28
XM_017019905.2:c.347_348insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	XP_016875394.1:p.Phe116LeufsTer28
XM_017019906.1:c.347_348insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	XP_016875395.1:p.Phe116LeufsTer28
XM_017019907.2:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	XP_016875396.1:p.Phe109LeufsTer28
XM_017019908.1:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	XP_016875397.1:p.Phe109LeufsTer28
XM_024449167.1:c.347_348insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	XP_024304935.1:p.Phe116LeufsTer28
NM_001032386.2:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG MANE Select	NP_001027558.1:p.Phe109LeufsTer28
NM_000456.3:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	NP_000447.2:p.Phe109LeufsTer28
NM_001032387.2:c.326_327insGTTATCCCAGCACTATAGGAGGCCAAGGTGGG	NP_001027559.1:p.Phe109LeufsTer28