Canonical Allele Identifier: CA6621055

Gene: SUOX

Linked Data

• ClinVar Variation Id: 618402
• ClinVar RCV Id: RCV000756731 ; RCV001267499 ; RCV003155304
• dbSNP Id: rs748900391
• ExAC: 12:56398014 CTG / C
• gnomAD v2: 12-56398014-CTG-C
• gnomAD v3: 12-56004230-CTG-C
• gnomAD v4: 12-56004230-CTG-C
• MyVariant Identifiers: chr12:g.56398015_56398016del (hg19) ; chr12:g.56004231_56004232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004231_56004232del , CM000674.2:g.56004231_56004232del	GRCh38
NC_000012.11:g.56398015_56398016del , CM000674.1:g.56398015_56398016del	GRCh37
NC_000012.10:g.54684282_54684283del	NCBI36
NG_008136.1:g.11973_11974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.842_843del MANE Select	ENSP00000266971.3:p.Leu281ArgfsTer19
ENST00000266971.7:c.842_843del	ENSP00000266971.3:p.Leu281ArgfsTer19
ENST00000356124.8:c.842_843del	ENSP00000348440.4:p.Leu281ArgfsTer19
ENST00000394109.7:c.842_843del	ENSP00000377668.3:p.Leu281ArgfsTer19
ENST00000394115.6:c.842_843del	ENSP00000377674.2:p.Leu281ArgfsTer19
ENST00000548274.5:c.842_843del	ENSP00000450245.1:p.Leu281ArgfsTer19
ENST00000550065.1:c.842_843del	ENSP00000450264.1:p.Leu281ArgfsTer19
ENST00000551841.6:c.*30_*31del	ENSP00000449443.1:n.*30_*31del
NM_000456.2:c.842_843del	NP_000447.2:p.Leu281ArgfsTer19
NM_001032386.1:c.842_843del	NP_001027558.1:p.Leu281ArgfsTer19
NM_001032387.1:c.842_843del	NP_001027559.1:p.Leu281ArgfsTer19
XM_005269112.1:c.863_864del	XP_005269169.1:p.Leu288ArgfsTer19
XM_017019905.2:c.863_864del	XP_016875394.1:p.Leu288ArgfsTer19
XM_017019906.1:c.863_864del	XP_016875395.1:p.Leu288ArgfsTer19
XM_017019907.2:c.842_843del	XP_016875396.1:p.Leu281ArgfsTer19
XM_017019908.1:c.842_843del	XP_016875397.1:p.Leu281ArgfsTer19
XM_024449167.1:c.863_864del	XP_024304935.1:p.Leu288ArgfsTer19
NM_001032386.2:c.842_843del MANE Select	NP_001027558.1:p.Leu281ArgfsTer19
NM_000456.3:c.842_843del	NP_000447.2:p.Leu281ArgfsTer19
NM_001032387.2:c.842_843del	NP_001027559.1:p.Leu281ArgfsTer19