Canonical Allele Identifier: CA658820891

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67166792del , CM000677.2:g.67166792del	GRCh38
NC_000015.9:g.67459130del , CM000677.1:g.67459130del	GRCh37
NC_000015.8:g.65246184del	NCBI36
NG_011990.1:g.105936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.-40del	ENSP00000454165.2:n.-40del
ENST00000558739.2:c.231del	ENSP00000453684.2:p.Gly78AlafsTer3
ENST00000558827.2:c.-40del	ENSP00000452767.2:n.-40del
ENST00000559460.6:c.231del	ENSP00000453082.2:p.Gly78AlafsTer3
ENST00000560424.2:c.546del	ENSP00000455540.2:p.Gly183AlafsTer3
ENST00000327367.9:c.546del MANE Select	ENSP00000332973.4:p.Gly183AlafsTer3
ENST00000679624.1:c.231del	ENSP00000505445.1:p.Gly78AlafsTer3
ENST00000681239.1:c.231del	ENSP00000505641.1:p.Gly78AlafsTer3
ENST00000327367.8:c.546del	ENSP00000332973.4:p.Gly183AlafsTer3
ENST00000439724.7:c.414del	ENSP00000401133.3:p.Gly139AlafsTer3
ENST00000537194.6:c.-40del	ENSP00000445348.2:n.-40del
ENST00000540846.6:c.231del	ENSP00000437757.2:p.Gly78AlafsTer3
ENST00000558428.5:c.-40del	ENSP00000454165.1:n.-40del
ENST00000558827.1:c.-40del	ENSP00000452767.1:n.-40del
ENST00000558894.5:c.231del	ENSP00000458060.1:p.Gly78AlafsTer3
ENST00000559460.5:c.231del	ENSP00000453082.1:p.Gly78AlafsTer3
ENST00000559937.1:n.396del
ENST00000560175.5:c.231del	ENSP00000455095.1:p.Gly78AlafsTer3
NM_001145102.1:c.231del	NP_001138574.1:p.Gly78AlafsTer3
NM_001145103.1:c.414del	NP_001138575.1:p.Gly139AlafsTer3
NM_001145104.1:c.-40del	NP_001138576.1:n.-40del
NM_005902.3:c.546del	NP_005893.1:p.Gly183AlafsTer3
XM_011521559.1:c.414del	XP_011519861.1:p.Gly139AlafsTer3
XM_011521560.1:c.399del	XP_011519862.1:p.Gly134AlafsTer3
XM_011521559.3:c.414del	XP_011519861.1:p.Gly139AlafsTer3
NM_005902.4:c.546del MANE Select	NP_005893.1:p.Gly183AlafsTer3
NM_001145102.2:c.231del	NP_001138574.1:p.Gly78AlafsTer3
NM_001145103.2:c.414del	NP_001138575.1:p.Gly139AlafsTer3
NM_001145104.2:c.-40del	NP_001138576.1:n.-40del