Canonical Allele Identifier: CA2549850680
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51067087_51067115del , CM000680.2:g.51067087_51067115del GRCh38
NC_000018.9:g.48593457_48593485del , CM000680.1:g.48593457_48593485del GRCh37
NC_000018.8:g.46847455_46847483del NCBI36
NG_013013.2:g.104048_104076del , LRG_318:g.104048_104076del

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1208_1236del ENSP00000465878.2:p.Ser403IlefsTer16
ENST00000589076.6:c.1208_1236del ENSP00000466934.2:p.Ser403IlefsTer16
ENST00000589941.2:c.1208_1236del ENSP00000465874.2:p.Ser403IlefsTer16
ENST00000590061.2:c.1208_1236del ENSP00000464772.2:p.Ser403IlefsTer16
ENST00000593223.2:c.1208_1236del ENSP00000466118.2:p.Ser403IlefsTer16
ENST00000611848.2:c.1208_1236del ENSP00000478613.2:p.Ser403IlefsTer16
ENST00000684953.1:n.2580_2608del
ENST00000685090.1:n.1659_1687del
ENST00000685232.1:n.1316_1344del
ENST00000688574.1:n.1316_1344del
ENST00000691124.1:n.2690_2718del
ENST00000342988.8:c.1208_1236del MANE Select ENSP00000341551.3:p.Ser403IlefsTer16
ENST00000342988.7:c.1208_1236del ENSP00000341551.3:p.Ser403IlefsTer16
ENST00000398417.6:c.1208_1236del ENSP00000381452.1:p.Ser403IlefsTer16
ENST00000588745.5:c.920_948del ENSP00000464901.1:p.Ser307IlefsTer16
ENST00000590499.1:n.266_294del
ENST00000591126.5:n.3209_3237del
ENST00000592186.5:c.955+7171_955+7199del ENSP00000468611.1:n.955+7171_955+7199del
ENST00000611848.1:c.408_436del
NM_005359.5:c.1208_1236del , LRG_318t1:c.1208_1236del NP_005350.1:p.Ser403IlefsTer16
NM_005359.6:c.1208_1236del MANE Select NP_005350.1:p.Ser403IlefsTer16