Canonical Allele Identifier: CA320096
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67164963_67164969delinsC , CM000677.2:g.67164963_67164969delinsC GRCh38
NC_000015.9:g.67457301_67457307delinsC , CM000677.1:g.67457301_67457307delinsC GRCh37
NC_000015.8:g.65244355_65244361delinsC NCBI36
NG_011990.1:g.104107_104113delinsC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558739.2:c.-41_-35delinsC ENSP00000453684.2:n.-41_-35delinsC
ENST00000559460.6:c.-41_-35delinsC ENSP00000453082.2:n.-41_-35delinsC
ENST00000560424.2:c.275_281delinsC ENSP00000455540.2:p.Trp92_Trp94delinsSer
ENST00000327367.9:c.275_281delinsC MANE Select ENSP00000332973.4:p.Trp92_Trp94delinsSer
ENST00000679624.1:c.-41_-35delinsC ENSP00000505445.1:n.-41_-35delinsC
ENST00000681239.1:c.-41_-35delinsC ENSP00000505641.1:n.-41_-35delinsC
ENST00000327367.8:c.275_281delinsC ENSP00000332973.4:p.Trp92_Trp94delinsSer
ENST00000439724.7:c.143_149delinsC ENSP00000401133.3:p.Trp48_Trp50delinsSer
ENST00000540846.6:c.-41_-35delinsC ENSP00000437757.2:n.-41_-35delinsC
ENST00000558739.1:c.-41_-35delinsC ENSP00000453684.1:n.-41_-35delinsC
ENST00000558894.5:c.-41_-35delinsC ENSP00000458060.1:n.-41_-35delinsC
ENST00000559092.1:c.220_226delinsC ENSP00000453788.1:p.Gly74_Gly76delinsArg
ENST00000559460.5:c.-41_-35delinsC ENSP00000453082.1:n.-41_-35delinsC
ENST00000559937.1:n.125_131delinsC
ENST00000560175.5:c.-41_-35delinsC ENSP00000455095.1:n.-41_-35delinsC
NM_001145102.1:c.-41_-35delinsC NP_001138574.1:n.-41_-35delinsC
NM_001145103.1:c.143_149delinsC NP_001138575.1:p.Trp48_Trp50delinsSer
NM_005902.3:c.275_281delinsC NP_005893.1:p.Trp92_Trp94delinsSer
XM_011521559.1:c.275_281delinsC XP_011519861.1:p.Trp92_Trp94delinsSer
XM_011521560.1:c.128_134delinsC XP_011519862.1:p.Trp43_Trp45delinsSer
XM_011521559.3:c.275_281delinsC XP_011519861.1:p.Trp92_Trp94delinsSer
NM_005902.4:c.275_281delinsC MANE Select NP_005893.1:p.Trp92_Trp94delinsSer
NM_001145102.2:c.-41_-35delinsC NP_001138574.1:n.-41_-35delinsC
NM_001145103.2:c.143_149delinsC NP_001138575.1:p.Trp48_Trp50delinsSer