Canonical Allele Identifier: CA915946051
Gene: SMAD3 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67165022_67165023delinsCT , CM000677.2:g.67165022_67165023delinsCT GRCh38
NC_000015.9:g.67457360_67457361delinsCT , CM000677.1:g.67457360_67457361delinsCT GRCh37
NC_000015.8:g.65244414_65244415delinsCT NCBI36
NG_011990.1:g.104166_104167delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000558739.2:c.19_20delinsCT ENSP00000453684.2:p.Ala7Leu
ENST00000559460.6:c.19_20delinsCT ENSP00000453082.2:p.Ala7Leu
ENST00000560424.2:c.334_335delinsCT ENSP00000455540.2:p.Ala112Leu
ENST00000327367.9:c.334_335delinsCT MANE Select ENSP00000332973.4:p.Ala112Leu
ENST00000679624.1:c.19_20delinsCT ENSP00000505445.1:p.Ala7Leu
ENST00000681239.1:c.19_20delinsCT ENSP00000505641.1:p.Ala7Leu
ENST00000327367.8:c.334_335delinsCT ENSP00000332973.4:p.Ala112Leu
ENST00000439724.7:c.202_203delinsCT ENSP00000401133.3:p.Ala68Leu
ENST00000540846.6:c.19_20delinsCT ENSP00000437757.2:p.Ala7Leu
ENST00000558739.1:c.19_20delinsCT ENSP00000453684.1:p.Ala7Leu
ENST00000558894.5:c.19_20delinsCT ENSP00000458060.1:p.Ala7Leu
ENST00000559092.1:c.279_280delinsCT ENSP00000453788.1:p.Pro94Ser
ENST00000559460.5:c.19_20delinsCT ENSP00000453082.1:p.Ala7Leu
ENST00000559937.1:n.184_185delinsCT
ENST00000560175.5:c.19_20delinsCT ENSP00000455095.1:p.Ala7Leu
NM_001145102.1:c.19_20delinsCT NP_001138574.1:p.Ala7Leu
NM_001145103.1:c.202_203delinsCT NP_001138575.1:p.Ala68Leu
NM_005902.3:c.334_335delinsCT NP_005893.1:p.Ala112Leu
XM_011521559.1:c.334_335delinsCT XP_011519861.1:p.Ala112Leu
XM_011521560.1:c.187_188delinsCT XP_011519862.1:p.Ala63Leu
XM_011521559.3:c.334_335delinsCT XP_011519861.1:p.Ala112Leu
NM_005902.4:c.334_335delinsCT MANE Select NP_005893.1:p.Ala112Leu
NM_001145102.2:c.19_20delinsCT NP_001138574.1:p.Ala7Leu
NM_001145103.2:c.202_203delinsCT NP_001138575.1:p.Ala68Leu