Canonical Allele Identifier: CA2619252755

Gene: SUOX

Linked Data

• gnomAD v4: 12-56003936-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56003937del , CM000674.2:g.56003937del	GRCh38
NC_000012.11:g.56397721del , CM000674.1:g.56397721del	GRCh37
NC_000012.10:g.54683988del	NCBI36
NG_008136.1:g.11679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.548del MANE Select	ENSP00000266971.3:p.His183ProfsTer4
ENST00000266971.7:c.548del	ENSP00000266971.3:p.His183ProfsTer4
ENST00000356124.8:c.548del	ENSP00000348440.4:p.His183ProfsTer4
ENST00000394109.7:c.548del	ENSP00000377668.3:p.His183ProfsTer4
ENST00000394115.6:c.548del	ENSP00000377674.2:p.His183ProfsTer4
ENST00000548274.5:c.548del	ENSP00000450245.1:p.His183ProfsTer4
ENST00000550065.1:c.548del	ENSP00000450264.1:p.His183ProfsTer4
ENST00000550340.5:n.433del
ENST00000551698.5:n.570del
ENST00000551841.6:c.268-217del	ENSP00000449443.1:n.268-217del
NM_000456.2:c.548del	NP_000447.2:p.His183ProfsTer4
NM_001032386.1:c.548del	NP_001027558.1:p.His183ProfsTer4
NM_001032387.1:c.548del	NP_001027559.1:p.His183ProfsTer4
XM_005269112.1:c.569del	XP_005269169.1:p.His190ProfsTer4
XM_017019905.2:c.569del	XP_016875394.1:p.His190ProfsTer4
XM_017019906.1:c.569del	XP_016875395.1:p.His190ProfsTer4
XM_017019907.2:c.548del	XP_016875396.1:p.His183ProfsTer4
XM_017019908.1:c.548del	XP_016875397.1:p.His183ProfsTer4
XM_024449167.1:c.569del	XP_024304935.1:p.His190ProfsTer4
NM_001032386.2:c.548del MANE Select	NP_001027558.1:p.His183ProfsTer4
NM_000456.3:c.548del	NP_000447.2:p.His183ProfsTer4
NM_001032387.2:c.548del	NP_001027559.1:p.His183ProfsTer4