Canonical Allele Identifier: CA2302989596

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51083985_51084001delinsACTTAACGCGCGTGCGC , CM000680.2:g.51083985_51084001delinsACTTAACGCGCGTGCGC	GRCh38
NC_000018.9:g.48610355_48610371delinsACTTAACGCGCGTGCGC , CM000680.1:g.48610355_48610371delinsACTTAACGCGCGTGCGC	GRCh37
NC_000018.8:g.46864353_46864369delinsACTTAACGCGCGTGCGC	NCBI36
NG_013013.2:g.120946_120962delinsACTTAACGCGCGTGCGC , LRG_318:g.120946_120962delinsACTTAACGCGCGTGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*5518_*5534delinsACTTAACGCGCGTGCGC	ENSP00000465878.2:n.*5518_*5534delinsACTTAACGCGCGTGCGC
ENST00000589076.6:c.*5518_*5534delinsACTTAACGCGCGTGCGC	ENSP00000466934.2:n.*5518_*5534delinsACTTAACGCGCGTGCGC
ENST00000589941.2:c.*5518_*5534delinsACTTAACGCGCGTGCGC	ENSP00000465874.2:n.*5518_*5534delinsACTTAACGCGCGTGCGC
ENST00000590061.2:c.*5518_*5534delinsACTTAACGCGCGTGCGC	ENSP00000464772.2:n.*5518_*5534delinsACTTAACGCGCGTGCGC
ENST00000688574.1:n.7285_7301delinsACTTAACGCGCGTGCGC
ENST00000342988.8:c.*5518_*5534delinsACTTAACGCGCGTGCGC MANE Select	ENSP00000341551.3:n.*5518_*5534delinsACTTAACGCGCGTGCGC
ENST00000342988.7:c.*5518_*5534delinsACTTAACGCGCGTGCGC	ENSP00000341551.3:n.*5518_*5534delinsACTTAACGCGCGTGCGC
ENST00000398417.6:c.*5518_*5534delinsACTTAACGCGCGTGCGC	ENSP00000381452.1:n.*5518_*5534delinsACTTAACGCGCGTGCGC
NM_005359.5:c.*5518_*5534delinsACTTAACGCGCGTGCGC , LRG_318t1:c.*5518_*5534delinsACTTAACGCGCGTGCGC	NP_005350.1:n.*5518_*5534delinsACTTAACGCGCGTGCGC
NM_005359.6:c.*5518_*5534delinsACTTAACGCGCGTGCGC MANE Select	NP_005350.1:n.*5518_*5534delinsACTTAACGCGCGTGCGC