Canonical Allele Identifier: CA491071720

Gene: SMAD3

Linked Data

• COSMIC: COSM1374210 ; COSM1374211
• MyVariant Identifiers: chr15:g.67457640_67457641insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165307dup , CM000677.2:g.67165307dup	GRCh38
NC_000015.9:g.67457645dup , CM000677.1:g.67457645dup	GRCh37
NC_000015.8:g.65244699dup	NCBI36
NG_011990.1:g.104451dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.140dup	ENSP00000453684.2:p.Leu48ThrfsTer13
ENST00000559460.6:c.140dup	ENSP00000453082.2:p.Leu48ThrfsTer13
ENST00000560424.2:c.455dup	ENSP00000455540.2:p.Leu153ThrfsTer13
ENST00000327367.9:c.455dup MANE Select	ENSP00000332973.4:p.Leu153ThrfsTer13
ENST00000679624.1:c.140dup	ENSP00000505445.1:p.Leu48ThrfsTer13
ENST00000681239.1:c.140dup	ENSP00000505641.1:p.Leu48ThrfsTer13
ENST00000327367.8:c.455dup	ENSP00000332973.4:p.Leu153ThrfsTer13
ENST00000439724.7:c.323dup	ENSP00000401133.3:p.Leu109ThrfsTer13
ENST00000540846.6:c.140dup	ENSP00000437757.2:p.Leu48ThrfsTer13
ENST00000558739.1:c.140dup	ENSP00000453684.1:p.Leu48ThrfsTer13
ENST00000558894.5:c.140dup	ENSP00000458060.1:p.Leu48ThrfsTer13
ENST00000559460.5:c.140dup	ENSP00000453082.1:p.Leu48ThrfsTer13
ENST00000559937.1:n.305dup
ENST00000560175.5:c.140dup	ENSP00000455095.1:p.Leu48ThrfsTer13
NM_001145102.1:c.140dup	NP_001138574.1:p.Leu48ThrfsTer13
NM_001145103.1:c.323dup	NP_001138575.1:p.Leu109ThrfsTer13
NM_005902.3:c.455dup	NP_005893.1:p.Leu153ThrfsTer13
XM_011521559.1:c.400+219dup	XP_011519861.1:n.400+219dup
XM_011521560.1:c.308dup	XP_011519862.1:p.Leu104ThrfsTer13
XM_011521559.3:c.400+219dup	XP_011519861.1:n.400+219dup
NM_005902.4:c.455dup MANE Select	NP_005893.1:p.Leu153ThrfsTer13
NM_001145102.2:c.140dup	NP_001138574.1:p.Leu48ThrfsTer13
NM_001145103.2:c.323dup	NP_001138575.1:p.Leu109ThrfsTer13