Canonical Allele Identifier: CA6621047

Gene: SUOX

Linked Data

• dbSNP Id: rs781559809
• ExAC: 12:56397971 CAACCG / C
• gnomAD v2: 12-56397971-CAACCG-C
• gnomAD v4: 12-56004187-CAACCG-C
• COSMIC: COSM1684328
• MyVariant Identifiers: chr12:g.56397972_56397976del (hg19) ; chr12:g.56004188_56004192del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004189_56004193del , CM000674.2:g.56004189_56004193del	GRCh38
NC_000012.11:g.56397973_56397977del , CM000674.1:g.56397973_56397977del	GRCh37
NC_000012.10:g.54684240_54684244del	NCBI36
NG_008136.1:g.11931_11935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.800_804del MANE Select	ENSP00000266971.3:p.Asn267ThrfsTer3
ENST00000266971.7:c.800_804del	ENSP00000266971.3:p.Asn267ThrfsTer3
ENST00000356124.8:c.800_804del	ENSP00000348440.4:p.Asn267ThrfsTer3
ENST00000394109.7:c.800_804del	ENSP00000377668.3:p.Asn267ThrfsTer3
ENST00000394115.6:c.800_804del	ENSP00000377674.2:p.Asn267ThrfsTer3
ENST00000548274.5:c.800_804del	ENSP00000450245.1:p.Asn267ThrfsTer3
ENST00000550065.1:c.800_804del	ENSP00000450264.1:p.Asn267ThrfsTer3
ENST00000551841.6:c.303_307del	ENSP00000449443.1:p.Gln101HisfsTer5
NM_000456.2:c.800_804del	NP_000447.2:p.Asn267ThrfsTer3
NM_001032386.1:c.800_804del	NP_001027558.1:p.Asn267ThrfsTer3
NM_001032387.1:c.800_804del	NP_001027559.1:p.Asn267ThrfsTer3
XM_005269112.1:c.821_825del	XP_005269169.1:p.Asn274ThrfsTer3
XM_017019905.2:c.821_825del	XP_016875394.1:p.Asn274ThrfsTer3
XM_017019906.1:c.821_825del	XP_016875395.1:p.Asn274ThrfsTer3
XM_017019907.2:c.800_804del	XP_016875396.1:p.Asn267ThrfsTer3
XM_017019908.1:c.800_804del	XP_016875397.1:p.Asn267ThrfsTer3
XM_024449167.1:c.821_825del	XP_024304935.1:p.Asn274ThrfsTer3
NM_001032386.2:c.800_804del MANE Select	NP_001027558.1:p.Asn267ThrfsTer3
NM_000456.3:c.800_804del	NP_000447.2:p.Asn267ThrfsTer3
NM_001032387.2:c.800_804del	NP_001027559.1:p.Asn267ThrfsTer3