Canonical Allele Identifier: CA2841977378
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51066965dup , CM000680.2:g.51066965dup GRCh38
NC_000018.9:g.48593335dup , CM000680.1:g.48593335dup GRCh37
NC_000018.8:g.46847333dup NCBI36
NG_013013.2:g.103926dup , LRG_318:g.103926dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1140-54dup ENSP00000465878.2:n.1140-54dup
ENST00000589076.6:c.1140-54dup ENSP00000466934.2:n.1140-54dup
ENST00000589941.2:c.1140-54dup ENSP00000465874.2:n.1140-54dup
ENST00000590061.2:c.1140-54dup ENSP00000464772.2:n.1140-54dup
ENST00000593223.2:c.1140-54dup ENSP00000466118.2:n.1140-54dup
ENST00000611848.2:c.1140-54dup ENSP00000478613.2:n.1140-54dup
ENST00000684953.1:n.2512-54dup
ENST00000685090.1:n.1591-54dup
ENST00000685232.1:n.1248-54dup
ENST00000688574.1:n.1248-54dup
ENST00000691124.1:n.2622-54dup
ENST00000342988.8:c.1140-54dup MANE Select ENSP00000341551.3:n.1140-54dup
ENST00000342988.7:c.1140-54dup ENSP00000341551.3:n.1140-54dup
ENST00000398417.6:c.1140-54dup ENSP00000381452.1:n.1140-54dup
ENST00000588745.5:c.852-54dup ENSP00000464901.1:n.852-54dup
ENST00000590499.1:n.144dup
ENST00000591126.5:n.3141-54dup
ENST00000592186.5:c.955+7049dup ENSP00000468611.1:n.955+7049dup
ENST00000611848.1:c.340-54dup
NM_005359.5:c.1140-54dup , LRG_318t1:c.1140-54dup NP_005350.1:n.1140-54dup
NM_005359.6:c.1140-54dup MANE Select NP_005350.1:n.1140-54dup