Canonical Allele Identifier: CA6621150
Gene: SUOX HGNC NCBI

Linked Data

ClinVar Variation Id: 1401523
ClinVar RCV Id: RCV001912914
dbSNP Id: rs770496917

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56004701_56004707del , CM000674.2:g.56004701_56004707del GRCh38
NC_000012.11:g.56398485_56398491del , CM000674.1:g.56398485_56398491del GRCh37
NC_000012.10:g.54684752_54684758del NCBI36
NG_008136.1:g.12443_12449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266971.8:c.1312_1318del MANE Select ENSP00000266971.3:p.Val438GlnfsTer4
ENST00000266971.7:c.1312_1318del ENSP00000266971.3:p.Val438GlnfsTer4
ENST00000356124.8:c.1312_1318del ENSP00000348440.4:p.Val438GlnfsTer4
ENST00000394109.7:c.1312_1318del ENSP00000377668.3:p.Val438GlnfsTer4
ENST00000394115.6:c.1312_1318del ENSP00000377674.2:p.Val438GlnfsTer4
ENST00000548274.5:c.1312_1318del ENSP00000450245.1:p.Val438GlnfsTer4
ENST00000550065.1:c.1312_1318del ENSP00000450264.1:p.Val438GlnfsTer4
NM_000456.2:c.1312_1318del NP_000447.2:p.Val438GlnfsTer4
NM_001032386.1:c.1312_1318del NP_001027558.1:p.Val438GlnfsTer4
NM_001032387.1:c.1312_1318del NP_001027559.1:p.Val438GlnfsTer4
XM_005269112.1:c.1333_1339del XP_005269169.1:p.Val445GlnfsTer4
XM_017019905.2:c.1333_1339del XP_016875394.1:p.Val445GlnfsTer4
XM_017019906.1:c.1333_1339del XP_016875395.1:p.Val445GlnfsTer4
XM_017019907.2:c.1312_1318del XP_016875396.1:p.Val438GlnfsTer4
XM_017019908.1:c.1312_1318del XP_016875397.1:p.Val438GlnfsTer4
XM_024449167.1:c.1333_1339del XP_024304935.1:p.Val445GlnfsTer4
NM_001032386.2:c.1312_1318del MANE Select NP_001027558.1:p.Val438GlnfsTer4
NM_000456.3:c.1312_1318del NP_000447.2:p.Val438GlnfsTer4
NM_001032387.2:c.1312_1318del NP_001027559.1:p.Val438GlnfsTer4