Canonical Allele Identifier: CA2804565008
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67166200del , CM000677.2:g.67166200del GRCh38
NC_000015.9:g.67458538del , CM000677.1:g.67458538del GRCh37
NC_000015.8:g.65245592del NCBI36
NG_011990.1:g.105344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558739.2:c.218-579del ENSP00000453684.2:n.218-579del
ENST00000559460.6:c.218-579del ENSP00000453082.2:n.218-579del
ENST00000560424.2:c.533-579del ENSP00000455540.2:n.533-579del
ENST00000327367.9:c.533-579del MANE Select ENSP00000332973.4:n.533-579del
ENST00000679624.1:c.218-579del ENSP00000505445.1:n.218-579del
ENST00000681239.1:c.218-579del ENSP00000505641.1:n.218-579del
ENST00000327367.8:c.533-579del ENSP00000332973.4:n.533-579del
ENST00000439724.7:c.401-579del ENSP00000401133.3:n.401-579del
ENST00000537194.6:c.-54+7del ENSP00000445348.2:n.-54+7del
ENST00000540846.6:c.218-579del ENSP00000437757.2:n.218-579del
ENST00000558894.5:c.218-579del ENSP00000458060.1:n.218-579del
ENST00000559460.5:c.218-579del ENSP00000453082.1:n.218-579del
ENST00000559937.1:n.383-579del
ENST00000560175.5:c.218-579del ENSP00000455095.1:n.218-579del
NM_001145102.1:c.218-579del NP_001138574.1:n.218-579del
NM_001145103.1:c.401-579del NP_001138575.1:n.401-579del
NM_001145104.1:c.-54+7del NP_001138576.1:n.-54+7del
NM_005902.3:c.533-579del NP_005893.1:n.533-579del
XM_011521559.1:c.401-579del XP_011519861.1:n.401-579del
XM_011521560.1:c.386-579del XP_011519862.1:n.386-579del
XM_011521559.3:c.401-579del XP_011519861.1:n.401-579del
NM_005902.4:c.533-579del MANE Select NP_005893.1:n.533-579del
NM_001145102.2:c.218-579del NP_001138574.1:n.218-579del
NM_001145103.2:c.401-579del NP_001138575.1:n.401-579del
NM_001145104.2:c.-54+7del NP_001138576.1:n.-54+7del