Canonical Allele Identifier: CA2302989592

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51083984_51083988delinsCACTT , CM000680.2:g.51083984_51083988delinsCACTT	GRCh38
NC_000018.9:g.48610354_48610358delinsCACTT , CM000680.1:g.48610354_48610358delinsCACTT	GRCh37
NC_000018.8:g.46864352_46864356delinsCACTT	NCBI36
NG_013013.2:g.120945_120949delinsCACTT , LRG_318:g.120945_120949delinsCACTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5517_*5521delinsCACTT	ENSP00000465878.2:n.*5517_*5521delinsCACTT
ENST00000589076.6:c.*5517_*5521delinsCACTT	ENSP00000466934.2:n.*5517_*5521delinsCACTT
ENST00000589941.2:c.*5517_*5521delinsCACTT	ENSP00000465874.2:n.*5517_*5521delinsCACTT
ENST00000590061.2:c.*5517_*5521delinsCACTT	ENSP00000464772.2:n.*5517_*5521delinsCACTT
ENST00000688574.1:n.7284_7288delinsCACTT
ENST00000342988.8:c.*5517_*5521delinsCACTT MANE Select	ENSP00000341551.3:n.*5517_*5521delinsCACTT
ENST00000342988.7:c.*5517_*5521delinsCACTT	ENSP00000341551.3:n.*5517_*5521delinsCACTT
ENST00000398417.6:c.*5517_*5521delinsCACTT	ENSP00000381452.1:n.*5517_*5521delinsCACTT
NM_005359.5:c.*5517_*5521delinsCACTT , LRG_318t1:c.*5517_*5521delinsCACTT	NP_005350.1:n.*5517_*5521delinsCACTT
NM_005359.6:c.*5517_*5521delinsCACTT MANE Select	NP_005350.1:n.*5517_*5521delinsCACTT