Canonical Allele Identifier: CA2302989601

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51083987_51083995delinsTTAACGCGC , CM000680.2:g.51083987_51083995delinsTTAACGCGC	GRCh38
NC_000018.9:g.48610357_48610365delinsTTAACGCGC , CM000680.1:g.48610357_48610365delinsTTAACGCGC	GRCh37
NC_000018.8:g.46864355_46864363delinsTTAACGCGC	NCBI36
NG_013013.2:g.120948_120956delinsTTAACGCGC , LRG_318:g.120948_120956delinsTTAACGCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5520_*5528delinsTTAACGCGC	ENSP00000465878.2:n.*5520_*5528delinsTTAACGCGC
ENST00000589076.6:c.*5520_*5528delinsTTAACGCGC	ENSP00000466934.2:n.*5520_*5528delinsTTAACGCGC
ENST00000589941.2:c.*5520_*5528delinsTTAACGCGC	ENSP00000465874.2:n.*5520_*5528delinsTTAACGCGC
ENST00000590061.2:c.*5520_*5528delinsTTAACGCGC	ENSP00000464772.2:n.*5520_*5528delinsTTAACGCGC
ENST00000688574.1:n.7287_7295delinsTTAACGCGC
ENST00000342988.8:c.*5520_*5528delinsTTAACGCGC MANE Select	ENSP00000341551.3:n.*5520_*5528delinsTTAACGCGC
ENST00000342988.7:c.*5520_*5528delinsTTAACGCGC	ENSP00000341551.3:n.*5520_*5528delinsTTAACGCGC
ENST00000398417.6:c.*5520_*5528delinsTTAACGCGC	ENSP00000381452.1:n.*5520_*5528delinsTTAACGCGC
NM_005359.5:c.*5520_*5528delinsTTAACGCGC , LRG_318t1:c.*5520_*5528delinsTTAACGCGC	NP_005350.1:n.*5520_*5528delinsTTAACGCGC
NM_005359.6:c.*5520_*5528delinsTTAACGCGC MANE Select	NP_005350.1:n.*5520_*5528delinsTTAACGCGC