Canonical Allele Identifier: CA2573054097

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1330798
• ClinVar RCV Id: RCV001802457 ; RCV001869473
• dbSNP Id: rs2140294805

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165297_67165307del , CM000677.2:g.67165297_67165307del	GRCh38
NC_000015.9:g.67457635_67457645del , CM000677.1:g.67457635_67457645del	GRCh37
NC_000015.8:g.65244689_65244699del	NCBI36
NG_011990.1:g.104441_104451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.130_140del	ENSP00000453684.2:p.Glu44ThrfsTer13
ENST00000559460.6:c.130_140del	ENSP00000453082.2:p.Glu44ThrfsTer13
ENST00000560424.2:c.445_455del	ENSP00000455540.2:p.Glu149ThrfsTer13
ENST00000327367.9:c.445_455del MANE Select	ENSP00000332973.4:p.Glu149ThrfsTer13
ENST00000679624.1:c.130_140del	ENSP00000505445.1:p.Glu44ThrfsTer13
ENST00000681239.1:c.130_140del	ENSP00000505641.1:p.Glu44ThrfsTer13
ENST00000327367.8:c.445_455del	ENSP00000332973.4:p.Glu149ThrfsTer13
ENST00000439724.7:c.313_323del	ENSP00000401133.3:p.Glu105ThrfsTer13
ENST00000540846.6:c.130_140del	ENSP00000437757.2:p.Glu44ThrfsTer13
ENST00000558739.1:c.130_140del	ENSP00000453684.1:p.Glu44ThrfsTer13
ENST00000558894.5:c.130_140del	ENSP00000458060.1:p.Glu44ThrfsTer13
ENST00000559460.5:c.130_140del	ENSP00000453082.1:p.Glu44ThrfsTer13
ENST00000559937.1:n.295_305del
ENST00000560175.5:c.130_140del	ENSP00000455095.1:p.Glu44ThrfsTer13
NM_001145102.1:c.130_140del	NP_001138574.1:p.Glu44ThrfsTer13
NM_001145103.1:c.313_323del	NP_001138575.1:p.Glu105ThrfsTer13
NM_005902.3:c.445_455del	NP_005893.1:p.Glu149ThrfsTer13
XM_011521559.1:c.400+209_400+219del	XP_011519861.1:n.400+209_400+219del
XM_011521560.1:c.298_308del	XP_011519862.1:p.Glu100ThrfsTer13
XM_011521559.3:c.400+209_400+219del	XP_011519861.1:n.400+209_400+219del
NM_005902.4:c.445_455del MANE Select	NP_005893.1:p.Glu149ThrfsTer13
NM_001145102.2:c.130_140del	NP_001138574.1:p.Glu44ThrfsTer13
NM_001145103.2:c.313_323del	NP_001138575.1:p.Glu105ThrfsTer13