Canonical Allele Identifier: CA2735231098
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs2144451404

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51066972_51066976del , CM000680.2:g.51066972_51066976del GRCh38
NC_000018.9:g.48593342_48593346del , CM000680.1:g.48593342_48593346del GRCh37
NC_000018.8:g.46847340_46847344del NCBI36
NG_013013.2:g.103933_103937del , LRG_318:g.103933_103937del

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1140-47_1140-43del ENSP00000465878.2:n.1140-47_1140-43del
ENST00000589076.6:c.1140-47_1140-43del ENSP00000466934.2:n.1140-47_1140-43del
ENST00000589941.2:c.1140-47_1140-43del ENSP00000465874.2:n.1140-47_1140-43del
ENST00000590061.2:c.1140-47_1140-43del ENSP00000464772.2:n.1140-47_1140-43del
ENST00000593223.2:c.1140-47_1140-43del ENSP00000466118.2:n.1140-47_1140-43del
ENST00000611848.2:c.1140-47_1140-43del ENSP00000478613.2:n.1140-47_1140-43del
ENST00000684953.1:n.2512-47_2512-43del
ENST00000685090.1:n.1591-47_1591-43del
ENST00000685232.1:n.1248-47_1248-43del
ENST00000688574.1:n.1248-47_1248-43del
ENST00000691124.1:n.2622-47_2622-43del
ENST00000342988.8:c.1140-47_1140-43del MANE Select ENSP00000341551.3:n.1140-47_1140-43del
ENST00000342988.7:c.1140-47_1140-43del ENSP00000341551.3:n.1140-47_1140-43del
ENST00000398417.6:c.1140-47_1140-43del ENSP00000381452.1:n.1140-47_1140-43del
ENST00000588745.5:c.852-47_852-43del ENSP00000464901.1:n.852-47_852-43del
ENST00000590499.1:n.151_155del
ENST00000591126.5:n.3141-47_3141-43del
ENST00000592186.5:c.955+7056_955+7060del ENSP00000468611.1:n.955+7056_955+7060del
ENST00000611848.1:c.340-47_340-43del
NM_005359.5:c.1140-47_1140-43del , LRG_318t1:c.1140-47_1140-43del NP_005350.1:n.1140-47_1140-43del
NM_005359.6:c.1140-47_1140-43del MANE Select NP_005350.1:n.1140-47_1140-43del