Canonical Allele Identifier: CA259168
Gene: SMAD4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51048811_51048817dup , CM000680.2:g.51048811_51048817dup GRCh38
NC_000018.9:g.48575181_48575187dup , CM000680.1:g.48575181_48575187dup GRCh37
NC_000018.8:g.46829179_46829185dup NCBI36
NG_013013.2:g.85772_85778dup , LRG_318:g.85772_85778dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.375_381dup ENSP00000465878.2:p.Val128CysfsTer17
ENST00000589076.6:c.375_381dup ENSP00000466934.2:p.Val128CysfsTer17
ENST00000589941.2:c.375_381dup ENSP00000465874.2:p.Val128CysfsTer17
ENST00000590061.2:c.375_381dup ENSP00000464772.2:p.Val128CysfsTer17
ENST00000593223.2:c.375_381dup ENSP00000466118.2:p.Val128CysfsTer17
ENST00000611848.2:c.375_381dup ENSP00000478613.2:p.Val128CysfsTer17
ENST00000342988.8:c.375_381dup MANE Select ENSP00000341551.3:p.Val128CysfsTer17
ENST00000342988.7:c.375_381dup ENSP00000341551.3:p.Val128CysfsTer17
ENST00000398417.6:c.375_381dup ENSP00000381452.1:p.Val128CysfsTer17
ENST00000588745.5:c.375_381dup ENSP00000464901.1:p.Val128CysfsTer17
ENST00000589706.1:n.243_249dup
ENST00000590061.1:c.375_381dup ENSP00000464772.1:p.Val128CysfsTer?
ENST00000590722.2:c.*398_*404dup ENSP00000465737.1:n.*398_*404dup
ENST00000591914.5:c.375_381dup ENSP00000466941.1:p.Val128CysfsTer17
ENST00000592186.5:c.375_381dup ENSP00000468611.1:p.Val128CysfsTer17
ENST00000592911.5:n.153_159dup
NM_005359.5:c.375_381dup , LRG_318t1:c.375_381dup NP_005350.1:p.Val128CysfsTer17
NM_005359.6:c.375_381dup MANE Select NP_005350.1:p.Val128CysfsTer17
Search 100 bp 5'
Search 100 bp 3'