Canonical Allele Identifier: CA2302981530

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067118_51067119delinsCT , CM000680.2:g.51067118_51067119delinsCT	GRCh38
NC_000018.9:g.48593488_48593489delinsCT , CM000680.1:g.48593488_48593489delinsCT	GRCh37
NC_000018.8:g.46847486_46847487delinsCT	NCBI36
NG_013013.2:g.104079_104080delinsCT , LRG_318:g.104079_104080delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1239_1240delinsCT	ENSP00000465878.2:p.Tyr413=
ENST00000589076.6:c.1239_1240delinsCT	ENSP00000466934.2:p.Tyr413=
ENST00000589941.2:c.1239_1240delinsCT	ENSP00000465874.2:p.Tyr413=
ENST00000590061.2:c.1239_1240delinsCT	ENSP00000464772.2:p.Tyr413=
ENST00000593223.2:c.1239_1240delinsCT	ENSP00000466118.2:p.Tyr413=
ENST00000611848.2:c.1239_1240delinsCT	ENSP00000478613.2:p.Tyr413=
ENST00000684953.1:n.2611_2612delinsCT
ENST00000685090.1:n.1690_1691delinsCT
ENST00000685232.1:n.1347_1348delinsCT
ENST00000688574.1:n.1347_1348delinsCT
ENST00000691124.1:n.2721_2722delinsCT
ENST00000342988.8:c.1239_1240delinsCT MANE Select	ENSP00000341551.3:p.Tyr413=
ENST00000342988.7:c.1239_1240delinsCT	ENSP00000341551.3:p.Tyr413=
ENST00000398417.6:c.1239_1240delinsCT	ENSP00000381452.1:p.Tyr413=
ENST00000588745.5:c.951_952delinsCT	ENSP00000464901.1:p.Tyr317=
ENST00000590499.1:n.297_298delinsCT
ENST00000591126.5:n.3240_3241delinsCT
ENST00000592186.5:c.955+7202_955+7203delinsCT	ENSP00000468611.1:n.955+7202_955+7203delinsCT
ENST00000593223.1:c.6_7delinsCT	ENSP00000466118.1:p.Tyr2=
ENST00000611848.1:c.439_440delinsCT
NM_005359.5:c.1239_1240delinsCT , LRG_318t1:c.1239_1240delinsCT	NP_005350.1:p.Tyr413=
NM_005359.6:c.1239_1240delinsCT MANE Select	NP_005350.1:p.Tyr413=