Canonical Allele Identifier: CA2524790705
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67184699del , CM000677.2:g.67184699del GRCh38
NC_000015.9:g.67477037del , CM000677.1:g.67477037del GRCh37
NC_000015.8:g.65264091del NCBI36
NG_011990.1:g.123843del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558428.6:c.287-28del ENSP00000454165.2:n.287-28del
ENST00000558739.2:c.557-28del ENSP00000453684.2:n.557-28del
ENST00000558827.2:c.287-28del ENSP00000452767.2:n.287-28del
ENST00000559460.6:c.557-28del ENSP00000453082.2:n.557-28del
ENST00000560424.2:c.872-28del ENSP00000455540.2:n.872-28del
ENST00000327367.9:c.872-28del MANE Select ENSP00000332973.4:n.872-28del
ENST00000679624.1:c.557-28del ENSP00000505445.1:n.557-28del
ENST00000680689.1:n.575-28del
ENST00000681239.1:c.557-28del ENSP00000505641.1:n.557-28del
ENST00000327367.8:c.872-28del ENSP00000332973.4:n.872-28del
ENST00000439724.7:c.740-28del ENSP00000401133.3:n.740-28del
ENST00000537194.6:c.287-28del ENSP00000445348.2:n.287-28del
ENST00000540846.6:c.557-28del ENSP00000437757.2:n.557-28del
ENST00000558827.1:c.287-28del ENSP00000452767.1:n.287-28del
ENST00000558894.5:c.557-2666del ENSP00000458060.1:n.557-2666del
ENST00000560402.1:n.283-8174del
NM_001145102.1:c.557-28del NP_001138574.1:n.557-28del
NM_001145103.1:c.740-28del NP_001138575.1:n.740-28del
NM_001145104.1:c.287-28del NP_001138576.1:n.287-28del
NM_005902.3:c.872-28del NP_005893.1:n.872-28del
XM_011521559.1:c.740-28del XP_011519861.1:n.740-28del
XM_011521560.1:c.725-28del XP_011519862.1:n.725-28del
XM_011521559.3:c.740-28del XP_011519861.1:n.740-28del
NM_005902.4:c.872-28del MANE Select NP_005893.1:n.872-28del
NM_001145102.2:c.557-28del NP_001138574.1:n.557-28del
NM_001145103.2:c.740-28del NP_001138575.1:n.740-28del
NM_001145104.2:c.287-28del NP_001138576.1:n.287-28del