Canonical Allele Identifier: CA605401144

Gene: SUOX

Linked Data

• dbSNP Id: rs1183756084
• gnomAD v2: 12-56398320-AGAGT-A
• gnomAD v4: 12-56004536-AGAGT-A
• MyVariant Identifiers: chr12:g.56398321_56398324del (hg19) ; chr12:g.56004537_56004540del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004542_56004545del , CM000674.2:g.56004542_56004545del	GRCh38
NC_000012.11:g.56398326_56398329del , CM000674.1:g.56398326_56398329del	GRCh37
NC_000012.10:g.54684593_54684596del	NCBI36
NG_008136.1:g.12284_12287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1153_1156del MANE Select	ENSP00000266971.3:p.Ser385CysfsTer27
ENST00000266971.7:c.1153_1156del	ENSP00000266971.3:p.Ser385CysfsTer27
ENST00000356124.8:c.1153_1156del	ENSP00000348440.4:p.Ser385CysfsTer27
ENST00000394109.7:c.1153_1156del	ENSP00000377668.3:p.Ser385CysfsTer27
ENST00000394115.6:c.1153_1156del	ENSP00000377674.2:p.Ser385CysfsTer27
ENST00000548274.5:c.1153_1156del	ENSP00000450245.1:p.Ser385CysfsTer27
ENST00000550065.1:c.1153_1156del	ENSP00000450264.1:p.Ser385CysfsTer27
ENST00000551841.6:c.*341_*344del	ENSP00000449443.1:n.*341_*344del
NM_000456.2:c.1153_1156del	NP_000447.2:p.Ser385CysfsTer27
NM_001032386.1:c.1153_1156del	NP_001027558.1:p.Ser385CysfsTer27
NM_001032387.1:c.1153_1156del	NP_001027559.1:p.Ser385CysfsTer27
XM_005269112.1:c.1174_1177del	XP_005269169.1:p.Ser392CysfsTer27
XM_017019905.2:c.1174_1177del	XP_016875394.1:p.Ser392CysfsTer27
XM_017019906.1:c.1174_1177del	XP_016875395.1:p.Ser392CysfsTer27
XM_017019907.2:c.1153_1156del	XP_016875396.1:p.Ser385CysfsTer27
XM_017019908.1:c.1153_1156del	XP_016875397.1:p.Ser385CysfsTer27
XM_024449167.1:c.1174_1177del	XP_024304935.1:p.Ser392CysfsTer27
NM_001032386.2:c.1153_1156del MANE Select	NP_001027558.1:p.Ser385CysfsTer27
NM_000456.3:c.1153_1156del	NP_000447.2:p.Ser385CysfsTer27
NM_001032387.2:c.1153_1156del	NP_001027559.1:p.Ser385CysfsTer27