Canonical Allele Identifier: CA2184410817

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165331_67165332delinsTC , CM000677.2:g.67165331_67165332delinsTC	GRCh38
NC_000015.9:g.67457669_67457670delinsTC , CM000677.1:g.67457669_67457670delinsTC	GRCh37
NC_000015.8:g.65244723_65244724delinsTC	NCBI36
NG_011990.1:g.104475_104476delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.164_165delinsTC	ENSP00000453684.2:p.Ile55=
ENST00000559460.6:c.164_165delinsTC	ENSP00000453082.2:p.Ile55=
ENST00000560424.2:c.479_480delinsTC	ENSP00000455540.2:p.Ile160=
ENST00000327367.9:c.479_480delinsTC MANE Select	ENSP00000332973.4:p.Ile160=
ENST00000679624.1:c.164_165delinsTC	ENSP00000505445.1:p.Ile55=
ENST00000681239.1:c.164_165delinsTC	ENSP00000505641.1:p.Ile55=
ENST00000327367.8:c.479_480delinsTC	ENSP00000332973.4:p.Ile160=
ENST00000439724.7:c.347_348delinsTC	ENSP00000401133.3:p.Ile116=
ENST00000540846.6:c.164_165delinsTC	ENSP00000437757.2:p.Ile55=
ENST00000558739.1:c.164_165delinsTC	ENSP00000453684.1:p.Ile55=
ENST00000558894.5:c.164_165delinsTC	ENSP00000458060.1:p.Ile55=
ENST00000559460.5:c.164_165delinsTC	ENSP00000453082.1:p.Ile55=
ENST00000559937.1:n.329_330delinsTC
ENST00000560175.5:c.164_165delinsTC	ENSP00000455095.1:p.Ile55=
NM_001145102.1:c.164_165delinsTC	NP_001138574.1:p.Ile55=
NM_001145103.1:c.347_348delinsTC	NP_001138575.1:p.Ile116=
NM_005902.3:c.479_480delinsTC	NP_005893.1:p.Ile160=
XM_011521559.1:c.400+243_400+244delinsTC	XP_011519861.1:n.400+243_400+244delinsTC
XM_011521560.1:c.332_333delinsTC	XP_011519862.1:p.Ile111=
XM_011521559.3:c.400+243_400+244delinsTC	XP_011519861.1:n.400+243_400+244delinsTC
NM_005902.4:c.479_480delinsTC MANE Select	NP_005893.1:p.Ile160=
NM_001145102.2:c.164_165delinsTC	NP_001138574.1:p.Ile55=
NM_001145103.2:c.347_348delinsTC	NP_001138575.1:p.Ile116=