Canonical Allele Identifier: CA2831039025
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51048770_51048771del , CM000680.2:g.51048770_51048771del GRCh38
NC_000018.9:g.48575140_48575141del , CM000680.1:g.48575140_48575141del GRCh37
NC_000018.8:g.46829138_46829139del NCBI36
NG_013013.2:g.85731_85732del , LRG_318:g.85731_85732del

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.334_335del ENSP00000465878.2:p.Val112Ter
ENST00000589076.6:c.334_335del ENSP00000466934.2:p.Val112Ter
ENST00000589941.2:c.334_335del ENSP00000465874.2:p.Val112Ter
ENST00000590061.2:c.334_335del ENSP00000464772.2:p.Val112Ter
ENST00000593223.2:c.334_335del ENSP00000466118.2:p.Val112Ter
ENST00000611848.2:c.334_335del ENSP00000478613.2:p.Val112Ter
ENST00000342988.8:c.334_335del MANE Select ENSP00000341551.3:p.Val112Ter
ENST00000342988.7:c.334_335del ENSP00000341551.3:p.Val112Ter
ENST00000398417.6:c.334_335del ENSP00000381452.1:p.Val112Ter
ENST00000588745.5:c.334_335del ENSP00000464901.1:p.Val112Ter
ENST00000588860.5:c.334_335del ENSP00000465878.1:p.Val112Ter
ENST00000589706.1:n.202_203del
ENST00000589941.1:c.334_335del ENSP00000465874.1:p.Val112Ter
ENST00000590061.1:c.334_335del ENSP00000464772.1:p.Val112Ter
ENST00000590722.2:c.*357_*358del ENSP00000465737.1:n.*357_*358del
ENST00000591914.5:c.334_335del ENSP00000466941.1:p.Val112Ter
ENST00000592186.5:c.334_335del ENSP00000468611.1:p.Val112Ter
ENST00000592911.5:n.112_113del
NM_005359.5:c.334_335del , LRG_318t1:c.334_335del NP_005350.1:p.Val112Ter
NM_005359.6:c.334_335del MANE Select NP_005350.1:p.Val112Ter