Canonical Allele Identifier: CA657292654
Gene: SMAD4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51046957_51046958insT , CM000680.2:g.51046957_51046958insT GRCh38
NC_000018.9:g.48573327_48573328insT , CM000680.1:g.48573327_48573328insT GRCh37
NC_000018.8:g.46827325_46827326insT NCBI36
NG_013013.2:g.83918_83919insT , LRG_318:g.83918_83919insT

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.-90_-89insT ENSP00000465878.2:n.-90_-89insT
ENST00000589076.6:c.-90_-89insT ENSP00000466934.2:n.-90_-89insT
ENST00000589941.2:c.-90_-89insT ENSP00000465874.2:n.-90_-89insT
ENST00000590061.2:c.-59-31_-59-30insT ENSP00000464772.2:n.-59-31_-59-30insT
ENST00000593223.2:c.-90_-89insT ENSP00000466118.2:n.-90_-89insT
ENST00000611848.2:c.-90_-89insT ENSP00000478613.2:n.-90_-89insT
ENST00000342988.8:c.-90_-89insT MANE Select ENSP00000341551.3:n.-90_-89insT
ENST00000342988.7:c.-90_-89insT ENSP00000341551.3:n.-90_-89insT
ENST00000398417.6:c.-90_-89insT ENSP00000381452.1:n.-90_-89insT
ENST00000588256.1:n.372_373insT
ENST00000588860.5:c.-90_-89insT ENSP00000465878.1:n.-90_-89insT
ENST00000589076.5:c.-90_-89insT ENSP00000466934.1:n.-90_-89insT
ENST00000589941.1:c.-90_-89insT ENSP00000465874.1:n.-90_-89insT
ENST00000590061.1:c.-59-31_-59-30insT ENSP00000464772.1:n.-59-31_-59-30insT
ENST00000590722.2:c.195_196insT ENSP00000465737.1:p.Val66CysfsTer2
ENST00000591914.5:c.-90_-89insT ENSP00000466941.1:n.-90_-89insT
ENST00000592911.5:n.28-1729_28-1728insT
NM_005359.5:c.-90_-89insT , LRG_318t1:c.-90_-89insT NP_005350.1:n.-90_-89insT
NM_005359.6:c.-90_-89insT MANE Select NP_005350.1:n.-90_-89insT