Canonical Allele Identifier: CA2302971769
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51047038_51047039delinsCT , CM000680.2:g.51047038_51047039delinsCT GRCh38
NC_000018.9:g.48573408_48573409delinsCT , CM000680.1:g.48573408_48573409delinsCT GRCh37
NC_000018.8:g.46827406_46827407delinsCT NCBI36
NG_013013.2:g.83999_84000delinsCT , LRG_318:g.83999_84000delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.-9_-8delinsCT ENSP00000465878.2:n.-9_-8delinsCT
ENST00000589076.6:c.-9_-8delinsCT ENSP00000466934.2:n.-9_-8delinsCT
ENST00000589941.2:c.-9_-8delinsCT ENSP00000465874.2:n.-9_-8delinsCT
ENST00000590061.2:c.-9_-8delinsCT ENSP00000464772.2:n.-9_-8delinsCT
ENST00000593223.2:c.-9_-8delinsCT ENSP00000466118.2:n.-9_-8delinsCT
ENST00000611848.2:c.-9_-8delinsCT ENSP00000478613.2:n.-9_-8delinsCT
ENST00000342988.8:c.-9_-8delinsCT MANE Select ENSP00000341551.3:n.-9_-8delinsCT
ENST00000342988.7:c.-9_-8delinsCT ENSP00000341551.3:n.-9_-8delinsCT
ENST00000398417.6:c.-9_-8delinsCT ENSP00000381452.1:n.-9_-8delinsCT
ENST00000588256.1:n.453_454delinsCT
ENST00000588860.5:c.-9_-8delinsCT ENSP00000465878.1:n.-9_-8delinsCT
ENST00000589076.5:c.-9_-8delinsCT ENSP00000466934.1:n.-9_-8delinsCT
ENST00000589941.1:c.-9_-8delinsCT ENSP00000465874.1:n.-9_-8delinsCT
ENST00000590061.1:c.-9_-8delinsCT ENSP00000464772.1:n.-9_-8delinsCT
ENST00000590722.2:c.*15_*16delinsCT ENSP00000465737.1:n.*15_*16delinsCT
ENST00000591914.5:c.-9_-8delinsCT ENSP00000466941.1:n.-9_-8delinsCT
ENST00000592911.5:n.28-1648_28-1647delinsCT
NM_005359.5:c.-9_-8delinsCT , LRG_318t1:c.-9_-8delinsCT NP_005350.1:n.-9_-8delinsCT
NM_005359.6:c.-9_-8delinsCT MANE Select NP_005350.1:n.-9_-8delinsCT