Canonical Allele Identifier: CA2184410401
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67165086_67165087delinsCA , CM000677.2:g.67165086_67165087delinsCA GRCh38
NC_000015.9:g.67457424_67457425delinsCA , CM000677.1:g.67457424_67457425delinsCA GRCh37
NC_000015.8:g.65244478_65244479delinsCA NCBI36
NG_011990.1:g.104230_104231delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558739.2:c.83_84delinsCA ENSP00000453684.2:p.Pro28=
ENST00000559460.6:c.83_84delinsCA ENSP00000453082.2:p.Pro28=
ENST00000560424.2:c.398_399delinsCA ENSP00000455540.2:p.Pro133=
ENST00000327367.9:c.398_399delinsCA MANE Select ENSP00000332973.4:p.Pro133=
ENST00000679624.1:c.83_84delinsCA ENSP00000505445.1:p.Pro28=
ENST00000681239.1:c.83_84delinsCA ENSP00000505641.1:p.Pro28=
ENST00000327367.8:c.398_399delinsCA ENSP00000332973.4:p.Pro133=
ENST00000439724.7:c.266_267delinsCA ENSP00000401133.3:p.Pro89=
ENST00000540846.6:c.83_84delinsCA ENSP00000437757.2:p.Pro28=
ENST00000558739.1:c.83_84delinsCA ENSP00000453684.1:p.Pro28=
ENST00000558894.5:c.83_84delinsCA ENSP00000458060.1:p.Pro28=
ENST00000559460.5:c.83_84delinsCA ENSP00000453082.1:p.Pro28=
ENST00000559937.1:n.248_249delinsCA
ENST00000560175.5:c.83_84delinsCA ENSP00000455095.1:p.Pro28=
NM_001145102.1:c.83_84delinsCA NP_001138574.1:p.Pro28=
NM_001145103.1:c.266_267delinsCA NP_001138575.1:p.Pro89=
NM_005902.3:c.398_399delinsCA NP_005893.1:p.Pro133=
XM_011521559.1:c.398_399delinsCA XP_011519861.1:p.Pro133=
XM_011521560.1:c.251_252delinsCA XP_011519862.1:p.Pro84=
XM_011521559.3:c.398_399delinsCA XP_011519861.1:p.Pro133=
NM_005902.4:c.398_399delinsCA MANE Select NP_005893.1:p.Pro133=
NM_001145102.2:c.83_84delinsCA NP_001138574.1:p.Pro28=
NM_001145103.2:c.266_267delinsCA NP_001138575.1:p.Pro89=