Canonical Allele Identifier: CA2580613862

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2431521
• ClinVar RCV Id: RCV003140575

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165287_67165288del , CM000677.2:g.67165287_67165288del	GRCh38
NC_000015.9:g.67457625_67457626del , CM000677.1:g.67457625_67457626del	GRCh37
NC_000015.8:g.65244679_65244680del	NCBI36
NG_011990.1:g.104431_104432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.120_121del	ENSP00000453684.2:p.Glu40AspfsTer20
ENST00000559460.6:c.120_121del	ENSP00000453082.2:p.Glu40AspfsTer20
ENST00000560424.2:c.435_436del	ENSP00000455540.2:p.Glu145AspfsTer20
ENST00000327367.9:c.435_436del MANE Select	ENSP00000332973.4:p.Glu145AspfsTer20
ENST00000679624.1:c.120_121del	ENSP00000505445.1:p.Glu40AspfsTer20
ENST00000681239.1:c.120_121del	ENSP00000505641.1:p.Glu40AspfsTer20
ENST00000327367.8:c.435_436del	ENSP00000332973.4:p.Glu145AspfsTer20
ENST00000439724.7:c.303_304del	ENSP00000401133.3:p.Glu101AspfsTer20
ENST00000540846.6:c.120_121del	ENSP00000437757.2:p.Glu40AspfsTer20
ENST00000558739.1:c.120_121del	ENSP00000453684.1:p.Glu40AspfsTer20
ENST00000558894.5:c.120_121del	ENSP00000458060.1:p.Glu40AspfsTer20
ENST00000559460.5:c.120_121del	ENSP00000453082.1:p.Glu40AspfsTer20
ENST00000559937.1:n.285_286del
ENST00000560175.5:c.120_121del	ENSP00000455095.1:p.Glu40AspfsTer20
NM_001145102.1:c.120_121del	NP_001138574.1:p.Glu40AspfsTer20
NM_001145103.1:c.303_304del	NP_001138575.1:p.Glu101AspfsTer20
NM_005902.3:c.435_436del	NP_005893.1:p.Glu145AspfsTer20
XM_011521559.1:c.400+199_400+200del	XP_011519861.1:n.400+199_400+200del
XM_011521560.1:c.288_289del	XP_011519862.1:p.Glu96AspfsTer20
XM_011521559.3:c.400+199_400+200del	XP_011519861.1:n.400+199_400+200del
NM_005902.4:c.435_436del MANE Select	NP_005893.1:p.Glu145AspfsTer20
NM_001145102.2:c.120_121del	NP_001138574.1:p.Glu40AspfsTer20
NM_001145103.2:c.303_304del	NP_001138575.1:p.Glu101AspfsTer20