Canonical Allele Identifier: CA2580613861

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1329284
• ClinVar RCV Id: RCV001799327
• dbSNP Id: rs2140294762

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165283_67165284del , CM000677.2:g.67165283_67165284del	GRCh38
NC_000015.9:g.67457621_67457622del , CM000677.1:g.67457621_67457622del	GRCh37
NC_000015.8:g.65244675_65244676del	NCBI36
NG_011990.1:g.104427_104428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.116_117del	ENSP00000453684.2:p.Thr39ArgfsTer21
ENST00000559460.6:c.116_117del	ENSP00000453082.2:p.Thr39ArgfsTer21
ENST00000560424.2:c.431_432del	ENSP00000455540.2:p.Thr144ArgfsTer21
ENST00000327367.9:c.431_432del MANE Select	ENSP00000332973.4:p.Thr144ArgfsTer21
ENST00000679624.1:c.116_117del	ENSP00000505445.1:p.Thr39ArgfsTer21
ENST00000681239.1:c.116_117del	ENSP00000505641.1:p.Thr39ArgfsTer21
ENST00000327367.8:c.431_432del	ENSP00000332973.4:p.Thr144ArgfsTer21
ENST00000439724.7:c.299_300del	ENSP00000401133.3:p.Thr100ArgfsTer21
ENST00000540846.6:c.116_117del	ENSP00000437757.2:p.Thr39ArgfsTer21
ENST00000558739.1:c.116_117del	ENSP00000453684.1:p.Thr39ArgfsTer21
ENST00000558894.5:c.116_117del	ENSP00000458060.1:p.Thr39ArgfsTer21
ENST00000559460.5:c.116_117del	ENSP00000453082.1:p.Thr39ArgfsTer21
ENST00000559937.1:n.281_282del
ENST00000560175.5:c.116_117del	ENSP00000455095.1:p.Thr39ArgfsTer21
NM_001145102.1:c.116_117del	NP_001138574.1:p.Thr39ArgfsTer21
NM_001145103.1:c.299_300del	NP_001138575.1:p.Thr100ArgfsTer21
NM_005902.3:c.431_432del	NP_005893.1:p.Thr144ArgfsTer21
XM_011521559.1:c.400+195_400+196del	XP_011519861.1:n.400+195_400+196del
XM_011521560.1:c.284_285del	XP_011519862.1:p.Thr95ArgfsTer21
XM_011521559.3:c.400+195_400+196del	XP_011519861.1:n.400+195_400+196del
NM_005902.4:c.431_432del MANE Select	NP_005893.1:p.Thr144ArgfsTer21
NM_001145102.2:c.116_117del	NP_001138574.1:p.Thr39ArgfsTer21
NM_001145103.2:c.299_300del	NP_001138575.1:p.Thr100ArgfsTer21