Canonical Allele Identifier: CA2302977897
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51059702_51059704delinsGAC , CM000680.2:g.51059702_51059704delinsGAC GRCh38
NC_000018.9:g.48586072_48586074delinsGAC , CM000680.1:g.48586072_48586074delinsGAC GRCh37
NC_000018.8:g.46840070_46840072delinsGAC NCBI36
NG_013013.2:g.96663_96665delinsGAC , LRG_318:g.96663_96665delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.905-164_905-162delinsGAC ENSP00000465878.2:n.905-164_905-162delinsGAC
ENST00000589076.6:c.905-164_905-162delinsGAC ENSP00000466934.2:n.905-164_905-162delinsGAC
ENST00000589941.2:c.905-164_905-162delinsGAC ENSP00000465874.2:n.905-164_905-162delinsGAC
ENST00000590061.2:c.905-164_905-162delinsGAC ENSP00000464772.2:n.905-164_905-162delinsGAC
ENST00000593223.2:c.905-164_905-162delinsGAC ENSP00000466118.2:n.905-164_905-162delinsGAC
ENST00000611848.2:c.905-164_905-162delinsGAC ENSP00000478613.2:n.905-164_905-162delinsGAC
ENST00000684953.1:n.2277-164_2277-162delinsGAC
ENST00000685090.1:n.1192_1194delinsGAC
ENST00000685232.1:n.1013-164_1013-162delinsGAC
ENST00000688307.1:n.156-164_156-162delinsGAC
ENST00000688574.1:n.1013-164_1013-162delinsGAC
ENST00000688903.1:n.1119-164_1119-162delinsGAC
ENST00000690892.1:n.1013-164_1013-162delinsGAC
ENST00000342988.8:c.905-164_905-162delinsGAC MANE Select ENSP00000341551.3:n.905-164_905-162delinsGAC
ENST00000342988.7:c.905-164_905-162delinsGAC ENSP00000341551.3:n.905-164_905-162delinsGAC
ENST00000398417.6:c.905-164_905-162delinsGAC ENSP00000381452.1:n.905-164_905-162delinsGAC
ENST00000588745.5:c.667+4709_667+4711delinsGAC ENSP00000464901.1:n.667+4709_667+4711delinsGAC
ENST00000591126.5:n.2906-164_2906-162delinsGAC
ENST00000592186.5:c.905-164_905-162delinsGAC ENSP00000468611.1:n.905-164_905-162delinsGAC
ENST00000611848.1:c.105-164_105-162delinsGAC
NM_005359.5:c.905-164_905-162delinsGAC , LRG_318t1:c.905-164_905-162delinsGAC NP_005350.1:n.905-164_905-162delinsGAC
NM_005359.6:c.905-164_905-162delinsGAC MANE Select NP_005350.1:n.905-164_905-162delinsGAC