Canonical Allele Identifier: CA2695220928

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187396del , CM000677.2:g.67187396del	GRCh38
NC_000015.9:g.67479734del , CM000677.1:g.67479734del	GRCh37
NC_000015.8:g.65266788del	NCBI36
NG_011990.1:g.126540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.456del	ENSP00000454165.2:p.Glu152AspfsTer20
ENST00000558739.2:c.726del	ENSP00000453684.2:p.Glu242AspfsTer20
ENST00000558827.2:c.456del	ENSP00000452767.2:p.Glu152AspfsTer20
ENST00000559460.6:c.726del	ENSP00000453082.2:p.Glu242AspfsTer20
ENST00000560424.2:c.1152del	ENSP00000455540.2:p.Glu384AspfsTer20
ENST00000327367.9:c.1041del MANE Select	ENSP00000332973.4:p.Glu347AspfsTer20
ENST00000679624.1:c.726del	ENSP00000505445.1:p.Glu242AspfsTer20
ENST00000680689.1:n.744del
ENST00000681239.1:c.726del	ENSP00000505641.1:p.Glu242AspfsTer20
ENST00000327367.8:c.1041del	ENSP00000332973.4:p.Glu347AspfsTer20
ENST00000439724.7:c.909del	ENSP00000401133.3:p.Glu303AspfsTer20
ENST00000537194.6:c.456del	ENSP00000445348.2:p.Glu152AspfsTer20
ENST00000540846.6:c.726del	ENSP00000437757.2:p.Glu242AspfsTer20
ENST00000558763.1:n.735del
ENST00000558894.5:c.588del	ENSP00000458060.1:p.Glu196AspfsTer?
ENST00000560402.1:n.283-5477del
ENST00000560424.1:c.233del
NM_001145102.1:c.726del	NP_001138574.1:p.Glu242AspfsTer20
NM_001145103.1:c.909del	NP_001138575.1:p.Glu303AspfsTer20
NM_001145104.1:c.456del	NP_001138576.1:p.Glu152AspfsTer20
NM_005902.3:c.1041del	NP_005893.1:p.Glu347AspfsTer20
XM_011521559.1:c.909del	XP_011519861.1:p.Glu303AspfsTer20
XM_011521560.1:c.894del	XP_011519862.1:p.Glu298AspfsTer20
XM_011521559.3:c.909del	XP_011519861.1:p.Glu303AspfsTer20
NM_005902.4:c.1041del MANE Select	NP_005893.1:p.Glu347AspfsTer20
NM_001145102.2:c.726del	NP_001138574.1:p.Glu242AspfsTer20
NM_001145103.2:c.909del	NP_001138575.1:p.Glu303AspfsTer20
NM_001145104.2:c.456del	NP_001138576.1:p.Glu152AspfsTer20