Canonical Allele Identifier: CA2697549153

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181354_67181379delinsT , CM000677.2:g.67181354_67181379delinsT	GRCh38
NC_000015.9:g.67473692_67473717delinsT , CM000677.1:g.67473692_67473717delinsT	GRCh37
NC_000015.8:g.65260746_65260771delinsT	NCBI36
NG_011990.1:g.120498_120523delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.187_212delinsT	ENSP00000454165.2:p.Asp63TrpfsTer6
ENST00000558739.2:c.457_482delinsT	ENSP00000453684.2:p.Asp153TrpfsTer6
ENST00000558827.2:c.187_212delinsT	ENSP00000452767.2:p.Asp63TrpfsTer6
ENST00000559460.6:c.457_482delinsT	ENSP00000453082.2:p.Asp153TrpfsTer6
ENST00000560424.2:c.772_797delinsT	ENSP00000455540.2:p.Asp258TrpfsTer6
ENST00000327367.9:c.772_797delinsT MANE Select	ENSP00000332973.4:p.Asp258TrpfsTer6
ENST00000679624.1:c.457_482delinsT	ENSP00000505445.1:p.Asp153TrpfsTer6
ENST00000680689.1:n.475_500delinsT
ENST00000681239.1:c.457_482delinsT	ENSP00000505641.1:p.Asp153TrpfsTer6
ENST00000327367.8:c.772_797delinsT	ENSP00000332973.4:p.Asp258TrpfsTer6
ENST00000439724.7:c.640_665delinsT	ENSP00000401133.3:p.Asp214TrpfsTer6
ENST00000537194.6:c.187_212delinsT	ENSP00000445348.2:p.Asp63TrpfsTer6
ENST00000540846.6:c.457_482delinsT	ENSP00000437757.2:p.Asp153TrpfsTer6
ENST00000558428.5:c.187_212delinsT	ENSP00000454165.1:p.Asp63TrpfsTer6
ENST00000558827.1:c.187_212delinsT	ENSP00000452767.1:p.Asp63TrpfsTer6
ENST00000558894.5:c.457_482delinsT	ENSP00000458060.1:p.Asp153TrpfsTer6
ENST00000560402.1:n.282+6770_282+6795delinsT
NM_001145102.1:c.457_482delinsT	NP_001138574.1:p.Asp153TrpfsTer6
NM_001145103.1:c.640_665delinsT	NP_001138575.1:p.Asp214TrpfsTer6
NM_001145104.1:c.187_212delinsT	NP_001138576.1:p.Asp63TrpfsTer6
NM_005902.3:c.772_797delinsT	NP_005893.1:p.Asp258TrpfsTer6
XM_011521559.1:c.640_665delinsT	XP_011519861.1:p.Asp214TrpfsTer6
XM_011521560.1:c.625_650delinsT	XP_011519862.1:p.Asp209TrpfsTer6
XM_011521559.3:c.640_665delinsT	XP_011519861.1:p.Asp214TrpfsTer6
NM_005902.4:c.772_797delinsT MANE Select	NP_005893.1:p.Asp258TrpfsTer6
NM_001145102.2:c.457_482delinsT	NP_001138574.1:p.Asp153TrpfsTer6
NM_001145103.2:c.640_665delinsT	NP_001138575.1:p.Asp214TrpfsTer6
NM_001145104.2:c.187_212delinsT	NP_001138576.1:p.Asp63TrpfsTer6