Canonical Allele Identifier: CA2302971850

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047234_51047243delinsCAAATGGAGC , CM000680.2:g.51047234_51047243delinsCAAATGGAGC	GRCh38
NC_000018.9:g.48573604_48573613delinsCAAATGGAGC , CM000680.1:g.48573604_48573613delinsCAAATGGAGC	GRCh37
NC_000018.8:g.46827602_46827611delinsCAAATGGAGC	NCBI36
NG_013013.2:g.84195_84204delinsCAAATGGAGC , LRG_318:g.84195_84204delinsCAAATGGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.188_197delinsCAAATGGAGC	ENSP00000465878.2:p.Thr63=
ENST00000589076.6:c.188_197delinsCAAATGGAGC	ENSP00000466934.2:p.Thr63=
ENST00000589941.2:c.188_197delinsCAAATGGAGC	ENSP00000465874.2:p.Thr63=
ENST00000590061.2:c.188_197delinsCAAATGGAGC	ENSP00000464772.2:p.Thr63=
ENST00000593223.2:c.188_197delinsCAAATGGAGC	ENSP00000466118.2:p.Thr63=
ENST00000611848.2:c.188_197delinsCAAATGGAGC	ENSP00000478613.2:p.Thr63=
ENST00000342988.8:c.188_197delinsCAAATGGAGC MANE Select	ENSP00000341551.3:p.Thr63=
ENST00000342988.7:c.188_197delinsCAAATGGAGC	ENSP00000341551.3:p.Thr63=
ENST00000398417.6:c.188_197delinsCAAATGGAGC	ENSP00000381452.1:p.Thr63=
ENST00000588745.5:c.188_197delinsCAAATGGAGC	ENSP00000464901.1:p.Thr63=
ENST00000588860.5:c.188_197delinsCAAATGGAGC	ENSP00000465878.1:p.Thr63=
ENST00000589076.5:c.188_197delinsCAAATGGAGC	ENSP00000466934.1:p.Thr63=
ENST00000589706.1:n.56_65delinsCAAATGGAGC
ENST00000589941.1:c.188_197delinsCAAATGGAGC	ENSP00000465874.1:p.Thr63=
ENST00000590061.1:c.188_197delinsCAAATGGAGC	ENSP00000464772.1:p.Thr63=
ENST00000590722.2:c.*211_*220delinsCAAATGGAGC	ENSP00000465737.1:n.*211_*220delinsCAAATGGAGC
ENST00000591914.5:c.188_197delinsCAAATGGAGC	ENSP00000466941.1:p.Thr63=
ENST00000592186.5:c.188_197delinsCAAATGGAGC	ENSP00000468611.1:p.Thr63=
ENST00000592911.5:n.28-1452_28-1443delinsCAAATGGAGC
NM_005359.5:c.188_197delinsCAAATGGAGC , LRG_318t1:c.188_197delinsCAAATGGAGC	NP_005350.1:p.Thr63=
NM_005359.6:c.188_197delinsCAAATGGAGC MANE Select	NP_005350.1:p.Thr63=