Canonical Allele Identifier: CA2302981427
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51066926_51066928delinsATT , CM000680.2:g.51066926_51066928delinsATT GRCh38
NC_000018.9:g.48593296_48593298delinsATT , CM000680.1:g.48593296_48593298delinsATT GRCh37
NC_000018.8:g.46847294_46847296delinsATT NCBI36
NG_013013.2:g.103887_103889delinsATT , LRG_318:g.103887_103889delinsATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1140-93_1140-91delinsATT ENSP00000465878.2:n.1140-93_1140-91delinsATT
ENST00000589076.6:c.1140-93_1140-91delinsATT ENSP00000466934.2:n.1140-93_1140-91delinsATT
ENST00000589941.2:c.1140-93_1140-91delinsATT ENSP00000465874.2:n.1140-93_1140-91delinsATT
ENST00000590061.2:c.1140-93_1140-91delinsATT ENSP00000464772.2:n.1140-93_1140-91delinsATT
ENST00000593223.2:c.1140-93_1140-91delinsATT ENSP00000466118.2:n.1140-93_1140-91delinsATT
ENST00000611848.2:c.1140-93_1140-91delinsATT ENSP00000478613.2:n.1140-93_1140-91delinsATT
ENST00000684953.1:n.2512-93_2512-91delinsATT
ENST00000685090.1:n.1591-93_1591-91delinsATT
ENST00000685232.1:n.1248-93_1248-91delinsATT
ENST00000688574.1:n.1248-93_1248-91delinsATT
ENST00000691124.1:n.2622-93_2622-91delinsATT
ENST00000342988.8:c.1140-93_1140-91delinsATT MANE Select ENSP00000341551.3:n.1140-93_1140-91delinsATT
ENST00000342988.7:c.1140-93_1140-91delinsATT ENSP00000341551.3:n.1140-93_1140-91delinsATT
ENST00000398417.6:c.1140-93_1140-91delinsATT ENSP00000381452.1:n.1140-93_1140-91delinsATT
ENST00000588745.5:c.852-93_852-91delinsATT ENSP00000464901.1:n.852-93_852-91delinsATT
ENST00000590499.1:n.105_107delinsATT
ENST00000591126.5:n.3141-93_3141-91delinsATT
ENST00000592186.5:c.955+7010_955+7012delinsATT ENSP00000468611.1:n.955+7010_955+7012delinsATT
ENST00000611848.1:c.340-93_340-91delinsATT
NM_005359.5:c.1140-93_1140-91delinsATT , LRG_318t1:c.1140-93_1140-91delinsATT NP_005350.1:n.1140-93_1140-91delinsATT
NM_005359.6:c.1140-93_1140-91delinsATT MANE Select NP_005350.1:n.1140-93_1140-91delinsATT