Canonical Allele Identifier: CA2302989599

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51083986_51083988delinsCTT , CM000680.2:g.51083986_51083988delinsCTT	GRCh38
NC_000018.9:g.48610356_48610358delinsCTT , CM000680.1:g.48610356_48610358delinsCTT	GRCh37
NC_000018.8:g.46864354_46864356delinsCTT	NCBI36
NG_013013.2:g.120947_120949delinsCTT , LRG_318:g.120947_120949delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5519_*5521delinsCTT	ENSP00000465878.2:n.*5519_*5521delinsCTT
ENST00000589076.6:c.*5519_*5521delinsCTT	ENSP00000466934.2:n.*5519_*5521delinsCTT
ENST00000589941.2:c.*5519_*5521delinsCTT	ENSP00000465874.2:n.*5519_*5521delinsCTT
ENST00000590061.2:c.*5519_*5521delinsCTT	ENSP00000464772.2:n.*5519_*5521delinsCTT
ENST00000688574.1:n.7286_7288delinsCTT
ENST00000342988.8:c.*5519_*5521delinsCTT MANE Select	ENSP00000341551.3:n.*5519_*5521delinsCTT
ENST00000342988.7:c.*5519_*5521delinsCTT	ENSP00000341551.3:n.*5519_*5521delinsCTT
ENST00000398417.6:c.*5519_*5521delinsCTT	ENSP00000381452.1:n.*5519_*5521delinsCTT
NM_005359.5:c.*5519_*5521delinsCTT , LRG_318t1:c.*5519_*5521delinsCTT	NP_005350.1:n.*5519_*5521delinsCTT
NM_005359.6:c.*5519_*5521delinsCTT MANE Select	NP_005350.1:n.*5519_*5521delinsCTT