Canonical Allele Identifier: CA605401135

Gene: SUOX

Linked Data

• dbSNP Id: rs1262603172
• gnomAD v2: 12-56398219-CAT-C
• gnomAD v4: 12-56004435-CAT-C
• MyVariant Identifiers: chr12:g.56398220_56398221del (hg19) ; chr12:g.56004436_56004437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004438_56004439del , CM000674.2:g.56004438_56004439del	GRCh38
NC_000012.11:g.56398222_56398223del , CM000674.1:g.56398222_56398223del	GRCh37
NC_000012.10:g.54684489_54684490del	NCBI36
NG_008136.1:g.12180_12181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1049_1050del MANE Select	ENSP00000266971.3:p.Tyr350Ter
ENST00000266971.7:c.1049_1050del	ENSP00000266971.3:p.Tyr350Ter
ENST00000356124.8:c.1049_1050del	ENSP00000348440.4:p.Tyr350Ter
ENST00000394109.7:c.1049_1050del	ENSP00000377668.3:p.Tyr350Ter
ENST00000394115.6:c.1049_1050del	ENSP00000377674.2:p.Tyr350Ter
ENST00000548274.5:c.1049_1050del	ENSP00000450245.1:p.Tyr350Ter
ENST00000550065.1:c.1049_1050del	ENSP00000450264.1:p.Tyr350Ter
ENST00000551841.6:c.*237_*238del	ENSP00000449443.1:n.*237_*238del
NM_000456.2:c.1049_1050del	NP_000447.2:p.Tyr350Ter
NM_001032386.1:c.1049_1050del	NP_001027558.1:p.Tyr350Ter
NM_001032387.1:c.1049_1050del	NP_001027559.1:p.Tyr350Ter
XM_005269112.1:c.1070_1071del	XP_005269169.1:p.Tyr357Ter
XM_017019905.2:c.1070_1071del	XP_016875394.1:p.Tyr357Ter
XM_017019906.1:c.1070_1071del	XP_016875395.1:p.Tyr357Ter
XM_017019907.2:c.1049_1050del	XP_016875396.1:p.Tyr350Ter
XM_017019908.1:c.1049_1050del	XP_016875397.1:p.Tyr350Ter
XM_024449167.1:c.1070_1071del	XP_024304935.1:p.Tyr357Ter
NM_001032386.2:c.1049_1050del MANE Select	NP_001027558.1:p.Tyr350Ter
NM_000456.3:c.1049_1050del	NP_000447.2:p.Tyr350Ter
NM_001032387.2:c.1049_1050del	NP_001027559.1:p.Tyr350Ter