Canonical Allele Identifier: CA2302981460
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51066981_51066999delinsTTATCAAGATAAAATGTAA , CM000680.2:g.51066981_51066999delinsTTATCAAGATAAAATGTAA GRCh38
NC_000018.9:g.48593351_48593369delinsTTATCAAGATAAAATGTAA , CM000680.1:g.48593351_48593369delinsTTATCAAGATAAAATGTAA GRCh37
NC_000018.8:g.46847349_46847367delinsTTATCAAGATAAAATGTAA NCBI36
NG_013013.2:g.103942_103960delinsTTATCAAGATAAAATGTAA , LRG_318:g.103942_103960delinsTTATCAAGATAAAATGTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA ENSP00000465878.2:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA
ENST00000589076.6:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA ENSP00000466934.2:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA
ENST00000589941.2:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA ENSP00000465874.2:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA
ENST00000590061.2:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA ENSP00000464772.2:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA
ENST00000593223.2:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA ENSP00000466118.2:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA
ENST00000611848.2:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA ENSP00000478613.2:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA
ENST00000684953.1:n.2512-38_2512-20delinsTTATCAAGATAAAATGTAA
ENST00000685090.1:n.1591-38_1591-20delinsTTATCAAGATAAAATGTAA
ENST00000685232.1:n.1248-38_1248-20delinsTTATCAAGATAAAATGTAA
ENST00000688574.1:n.1248-38_1248-20delinsTTATCAAGATAAAATGTAA
ENST00000691124.1:n.2622-38_2622-20delinsTTATCAAGATAAAATGTAA
ENST00000342988.8:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA MANE Select ENSP00000341551.3:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA
ENST00000342988.7:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA ENSP00000341551.3:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA
ENST00000398417.6:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA ENSP00000381452.1:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA
ENST00000588745.5:c.852-38_852-20delinsTTATCAAGATAAAATGTAA ENSP00000464901.1:n.852-38_852-20delinsTTATCAAGATAAAATGTAA
ENST00000590499.1:n.160_178delinsTTATCAAGATAAAATGTAA
ENST00000591126.5:n.3141-38_3141-20delinsTTATCAAGATAAAATGTAA
ENST00000592186.5:c.955+7065_955+7083delinsTTATCAAGATAAAATGTAA ENSP00000468611.1:n.955+7065_955+7083delinsTTATCAAGATAAAATGTA...
ENST00000611848.1:c.340-38_340-20delinsTTATCAAGATAAAATGTAA
NM_005359.5:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA , LRG_318t1:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA NP_005350.1:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA
NM_005359.6:c.1140-38_1140-20delinsTTATCAAGATAAAATGTAA MANE Select NP_005350.1:n.1140-38_1140-20delinsTTATCAAGATAAAATGTAA