Canonical Allele Identifier: CA2038198081

Gene: SUOX

Linked Data

• ClinVar Variation Id: 988664
• ClinVar RCV Id: RCV001270364 ; RCV003405479
• dbSNP Id: rs1890688726
• gnomAD v4: 12-56004905-ATTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004910_56004913del , CM000674.2:g.56004910_56004913del	GRCh38
NC_000012.11:g.56398694_56398697del , CM000674.1:g.56398694_56398697del	GRCh37
NC_000012.10:g.54684961_54684964del	NCBI36
NG_008136.1:g.12652_12655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1521_1524del MANE Select	ENSP00000266971.3:p.Cys508ArgfsTer?
ENST00000266971.7:c.1521_1524del	ENSP00000266971.3:p.Cys508ArgfsTer?
ENST00000356124.8:c.1521_1524del	ENSP00000348440.4:p.Cys508ArgfsTer?
ENST00000394109.7:c.1521_1524del	ENSP00000377668.3:p.Cys508ArgfsTer?
ENST00000394115.6:c.1521_1524del	ENSP00000377674.2:p.Cys508ArgfsTer?
ENST00000548274.5:c.1521_1524del	ENSP00000450245.1:p.Cys508ArgfsTer?
ENST00000550065.1:c.1521_1524del	ENSP00000450264.1:p.Cys508ArgfsTer?
NM_000456.2:c.1521_1524del	NP_000447.2:p.Cys508ArgfsTer?
NM_001032386.1:c.1521_1524del	NP_001027558.1:p.Cys508ArgfsTer?
NM_001032387.1:c.1521_1524del	NP_001027559.1:p.Cys508ArgfsTer?
XM_005269112.1:c.1542_1545del	XP_005269169.1:p.Cys515ArgfsTer?
XM_017019905.2:c.1542_1545del	XP_016875394.1:p.Cys515ArgfsTer?
XM_017019906.1:c.1542_1545del	XP_016875395.1:p.Cys515ArgfsTer?
XM_017019907.2:c.1521_1524del	XP_016875396.1:p.Cys508ArgfsTer?
XM_017019908.1:c.1521_1524del	XP_016875397.1:p.Cys508ArgfsTer?
XM_024449167.1:c.1542_1545del	XP_024304935.1:p.Cys515ArgfsTer?
NM_001032386.2:c.1521_1524del MANE Select	NP_001027558.1:p.Cys508ArgfsTer?
NM_000456.3:c.1521_1524del	NP_000447.2:p.Cys508ArgfsTer?
NM_001032387.2:c.1521_1524del	NP_001027559.1:p.Cys508ArgfsTer?