Canonical Allele Identifier: CA8965846

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51054995_51054996insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG , CM000680.2:g.51054995_51054996insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	GRCh38
NC_000018.9:g.48581365_48581366insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG , CM000680.1:g.48581365_48581366insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	GRCh37
NC_000018.8:g.46835363_46835364insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	NCBI36
NG_013013.2:g.91956_91957insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG , LRG_318:g.91956_91957insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG

Transcript Alleles

HGVS	Amino-acid Change
NM_005359.6:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG MANE Select	NP_005350.1:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGT...
ENST00000342988.8:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG MANE Select	ENSP00000341551.3:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
NM_005359.5:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG , LRG_318t1:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	NP_005350.1:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGT...
ENST00000342988.7:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000341551.3:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
ENST00000398417.6:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000381452.1:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
ENST00000588745.5:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000464901.1:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
ENST00000588860.6:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000465878.2:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
ENST00000589076.6:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000466934.2:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
ENST00000589941.2:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000465874.2:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
ENST00000590061.2:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000464772.2:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
ENST00000590722.2:c.*843+2_*843+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000465737.1:n.*843+2_*843+3insCAGCCTGCCAGTATACTGGGGGGCA...
ENST00000591126.5:n.2668+2_2668+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG
ENST00000592186.5:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000468611.1:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
ENST00000592911.5:n.445+2_445+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG
ENST00000593223.2:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000466118.2:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
ENST00000611848.2:c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	ENSP00000478613.2:n.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGC...
ENST00000684953.1:n.2039+2_2039+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG
ENST00000688307.1:n.155+2_155+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG