Canonical Allele Identifier: CA2184410752

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165301_67165302delinsTC , CM000677.2:g.67165301_67165302delinsTC	GRCh38
NC_000015.9:g.67457639_67457640delinsTC , CM000677.1:g.67457639_67457640delinsTC	GRCh37
NC_000015.8:g.65244693_65244694delinsTC	NCBI36
NG_011990.1:g.104445_104446delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.134_135delinsTC	ENSP00000453684.2:p.Phe45=
ENST00000559460.6:c.134_135delinsTC	ENSP00000453082.2:p.Phe45=
ENST00000560424.2:c.449_450delinsTC	ENSP00000455540.2:p.Phe150=
ENST00000327367.9:c.449_450delinsTC MANE Select	ENSP00000332973.4:p.Phe150=
ENST00000679624.1:c.134_135delinsTC	ENSP00000505445.1:p.Phe45=
ENST00000681239.1:c.134_135delinsTC	ENSP00000505641.1:p.Phe45=
ENST00000327367.8:c.449_450delinsTC	ENSP00000332973.4:p.Phe150=
ENST00000439724.7:c.317_318delinsTC	ENSP00000401133.3:p.Phe106=
ENST00000540846.6:c.134_135delinsTC	ENSP00000437757.2:p.Phe45=
ENST00000558739.1:c.134_135delinsTC	ENSP00000453684.1:p.Phe45=
ENST00000558894.5:c.134_135delinsTC	ENSP00000458060.1:p.Phe45=
ENST00000559460.5:c.134_135delinsTC	ENSP00000453082.1:p.Phe45=
ENST00000559937.1:n.299_300delinsTC
ENST00000560175.5:c.134_135delinsTC	ENSP00000455095.1:p.Phe45=
NM_001145102.1:c.134_135delinsTC	NP_001138574.1:p.Phe45=
NM_001145103.1:c.317_318delinsTC	NP_001138575.1:p.Phe106=
NM_005902.3:c.449_450delinsTC	NP_005893.1:p.Phe150=
XM_011521559.1:c.400+213_400+214delinsTC	XP_011519861.1:n.400+213_400+214delinsTC
XM_011521560.1:c.302_303delinsTC	XP_011519862.1:p.Phe101=
XM_011521559.3:c.400+213_400+214delinsTC	XP_011519861.1:n.400+213_400+214delinsTC
NM_005902.4:c.449_450delinsTC MANE Select	NP_005893.1:p.Phe150=
NM_001145102.2:c.134_135delinsTC	NP_001138574.1:p.Phe45=
NM_001145103.2:c.317_318delinsTC	NP_001138575.1:p.Phe106=