Canonical Allele Identifier: CA605401059

Gene: SUOX

Linked Data

• dbSNP Id: rs1471707788
• gnomAD v2: 12-56397979-GCT-G
• MyVariant Identifiers: chr12:g.56397980_56397981del (hg19) ; chr12:g.56004196_56004197del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004198_56004199del , CM000674.2:g.56004198_56004199del	GRCh38
NC_000012.11:g.56397982_56397983del , CM000674.1:g.56397982_56397983del	GRCh37
NC_000012.10:g.54684249_54684250del	NCBI36
NG_008136.1:g.11940_11941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.809_810del MANE Select	ENSP00000266971.3:p.Ser270Ter
ENST00000266971.7:c.809_810del	ENSP00000266971.3:p.Ser270Ter
ENST00000356124.8:c.809_810del	ENSP00000348440.4:p.Ser270Ter
ENST00000394109.7:c.809_810del	ENSP00000377668.3:p.Ser270Ter
ENST00000394115.6:c.809_810del	ENSP00000377674.2:p.Ser270Ter
ENST00000548274.5:c.809_810del	ENSP00000450245.1:p.Ser270Ter
ENST00000550065.1:c.809_810del	ENSP00000450264.1:p.Ser270Ter
ENST00000551841.6:c.312_313del	ENSP00000449443.1:p.Ter105ArgextTer2
NM_000456.2:c.809_810del	NP_000447.2:p.Ser270Ter
NM_001032386.1:c.809_810del	NP_001027558.1:p.Ser270Ter
NM_001032387.1:c.809_810del	NP_001027559.1:p.Ser270Ter
XM_005269112.1:c.830_831del	XP_005269169.1:p.Ser277Ter
XM_017019905.2:c.830_831del	XP_016875394.1:p.Ser277Ter
XM_017019906.1:c.830_831del	XP_016875395.1:p.Ser277Ter
XM_017019907.2:c.809_810del	XP_016875396.1:p.Ser270Ter
XM_017019908.1:c.809_810del	XP_016875397.1:p.Ser270Ter
XM_024449167.1:c.830_831del	XP_024304935.1:p.Ser277Ter
NM_001032386.2:c.809_810del MANE Select	NP_001027558.1:p.Ser270Ter
NM_000456.3:c.809_810del	NP_000447.2:p.Ser270Ter
NM_001032387.2:c.809_810del	NP_001027559.1:p.Ser270Ter