Canonical Allele Identifier: CA915946042

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 694380
• ClinVar RCV Id: RCV000993699
• dbSNP Id: rs1595956538

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181318del , CM000677.2:g.67181318del	GRCh38
NC_000015.9:g.67473656del , CM000677.1:g.67473656del	GRCh37
NC_000015.8:g.65260710del	NCBI36
NG_011990.1:g.120462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.151del	ENSP00000454165.2:p.Glu51ArgfsTer10
ENST00000558739.2:c.421del	ENSP00000453684.2:p.Glu141ArgfsTer10
ENST00000558827.2:c.151del	ENSP00000452767.2:p.Glu51ArgfsTer10
ENST00000559460.6:c.421del	ENSP00000453082.2:p.Glu141ArgfsTer10
ENST00000560424.2:c.736del	ENSP00000455540.2:p.Glu246ArgfsTer10
ENST00000327367.9:c.736del MANE Select	ENSP00000332973.4:p.Glu246ArgfsTer10
ENST00000679624.1:c.421del	ENSP00000505445.1:p.Glu141ArgfsTer10
ENST00000680689.1:n.439del
ENST00000681239.1:c.421del	ENSP00000505641.1:p.Glu141ArgfsTer10
ENST00000327367.8:c.736del	ENSP00000332973.4:p.Glu246ArgfsTer10
ENST00000439724.7:c.604del	ENSP00000401133.3:p.Glu202ArgfsTer10
ENST00000537194.6:c.151del	ENSP00000445348.2:p.Glu51ArgfsTer10
ENST00000540846.6:c.421del	ENSP00000437757.2:p.Glu141ArgfsTer10
ENST00000558428.5:c.151del	ENSP00000454165.1:p.Glu51ArgfsTer10
ENST00000558827.1:c.151del	ENSP00000452767.1:p.Glu51ArgfsTer10
ENST00000558894.5:c.421del	ENSP00000458060.1:p.Glu141ArgfsTer10
ENST00000560402.1:n.282+6734del
NM_001145102.1:c.421del	NP_001138574.1:p.Glu141ArgfsTer10
NM_001145103.1:c.604del	NP_001138575.1:p.Glu202ArgfsTer10
NM_001145104.1:c.151del	NP_001138576.1:p.Glu51ArgfsTer10
NM_005902.3:c.736del	NP_005893.1:p.Glu246ArgfsTer10
XM_011521559.1:c.604del	XP_011519861.1:p.Glu202ArgfsTer10
XM_011521560.1:c.589del	XP_011519862.1:p.Glu197ArgfsTer10
XM_011521559.3:c.604del	XP_011519861.1:p.Glu202ArgfsTer10
NM_005902.4:c.736del MANE Select	NP_005893.1:p.Glu246ArgfsTer10
NM_001145102.2:c.421del	NP_001138574.1:p.Glu141ArgfsTer10
NM_001145103.2:c.604del	NP_001138575.1:p.Glu202ArgfsTer10
NM_001145104.2:c.151del	NP_001138576.1:p.Glu51ArgfsTer10