Canonical Allele Identifier: CA2531540544
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078010_51078016del , CM000680.2:g.51078010_51078016del GRCh38
NC_000018.9:g.48604380_48604386del , CM000680.1:g.48604380_48604386del GRCh37
NC_000018.8:g.46858378_46858384del NCBI36
NG_013013.2:g.114971_114977del , LRG_318:g.114971_114977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1448-246_1448-240del ENSP00000465878.2:n.1448-246_1448-240del
ENST00000589076.6:c.1448-246_1448-240del ENSP00000466934.2:n.1448-246_1448-240del
ENST00000589941.2:c.1448-246_1448-240del ENSP00000465874.2:n.1448-246_1448-240del
ENST00000590061.2:c.1448-246_1448-240del ENSP00000464772.2:n.1448-246_1448-240del
ENST00000593223.2:c.*1199_*1205del ENSP00000466118.2:n.*1199_*1205del
ENST00000611848.2:c.*100-246_*100-240del ENSP00000478613.2:n.*100-246_*100-240del
ENST00000684953.1:n.3463-246_3463-240del
ENST00000685090.1:n.3132_3138del
ENST00000685232.1:n.1669-246_1669-240del
ENST00000688574.1:n.1556-246_1556-240del
ENST00000691124.1:n.4163_4169del
ENST00000342988.8:c.1448-246_1448-240del MANE Select ENSP00000341551.3:n.1448-246_1448-240del
ENST00000342988.7:c.1448-246_1448-240del ENSP00000341551.3:n.1448-246_1448-240del
ENST00000398417.6:c.1448-246_1448-240del ENSP00000381452.1:n.1448-246_1448-240del
ENST00000586253.1:n.170-246_170-240del
ENST00000588745.5:c.1160-246_1160-240del ENSP00000464901.1:n.1160-246_1160-240del
ENST00000591126.5:n.3449-246_3449-240del
ENST00000592186.5:c.1095-246_1095-240del ENSP00000468611.1:n.1095-246_1095-240del
ENST00000611848.1:c.761-246_761-240del
NM_005359.5:c.1448-246_1448-240del , LRG_318t1:c.1448-246_1448-240del NP_005350.1:n.1448-246_1448-240del
NM_005359.6:c.1448-246_1448-240del MANE Select NP_005350.1:n.1448-246_1448-240del