Canonical Allele Identifier: CA2302981542

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910184143

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067130_51067131insATTACATTTTATCTT , CM000680.2:g.51067130_51067131insATTACATTTTATCTT	GRCh38
NC_000018.9:g.48593500_48593501insATTACATTTTATCTT , CM000680.1:g.48593500_48593501insATTACATTTTATCTT	GRCh37
NC_000018.8:g.46847498_46847499insATTACATTTTATCTT	NCBI36
NG_013013.2:g.104091_104092insATTACATTTTATCTT , LRG_318:g.104091_104092insATTACATTTTATCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1251_1252insATTACATTTTATCTT	ENSP00000465878.2:p.Glu417_Ala418insIleThrPheTyrLeu
ENST00000589076.6:c.1251_1252insATTACATTTTATCTT	ENSP00000466934.2:p.Glu417_Ala418insIleThrPheTyrLeu
ENST00000589941.2:c.1251_1252insATTACATTTTATCTT	ENSP00000465874.2:p.Glu417_Ala418insIleThrPheTyrLeu
ENST00000590061.2:c.1251_1252insATTACATTTTATCTT	ENSP00000464772.2:p.Glu417_Ala418insIleThrPheTyrLeu
ENST00000593223.2:c.1251_1252insATTACATTTTATCTT	ENSP00000466118.2:p.Glu417_Ala418insIleThrPheTyrLeu
ENST00000611848.2:c.1251_1252insATTACATTTTATCTT	ENSP00000478613.2:p.Glu417_Ala418insIleThrPheTyrLeu
ENST00000684953.1:n.2623_2624insATTACATTTTATCTT
ENST00000685090.1:n.1702_1703insATTACATTTTATCTT
ENST00000685232.1:n.1359_1360insATTACATTTTATCTT
ENST00000688574.1:n.1359_1360insATTACATTTTATCTT
ENST00000691124.1:n.2733_2734insATTACATTTTATCTT
ENST00000342988.8:c.1251_1252insATTACATTTTATCTT MANE Select	ENSP00000341551.3:p.Glu417_Ala418insIleThrPheTyrLeu
ENST00000342988.7:c.1251_1252insATTACATTTTATCTT	ENSP00000341551.3:p.Glu417_Ala418insIleThrPheTyrLeu
ENST00000398417.6:c.1251_1252insATTACATTTTATCTT	ENSP00000381452.1:p.Glu417_Ala418insIleThrPheTyrLeu
ENST00000588745.5:c.963_964insATTACATTTTATCTT	ENSP00000464901.1:p.Glu321_Ala322insIleThrPheTyrLeu
ENST00000590499.1:n.309_310insATTACATTTTATCTT
ENST00000591126.5:n.3252_3253insATTACATTTTATCTT
ENST00000592186.5:c.955+7214_955+7215insATTACATTTTATCTT	ENSP00000468611.1:n.955+7214_955+7215insATTACATTTTATCTT
ENST00000593223.1:c.18_19insATTACATTTTATCTT	ENSP00000466118.1:p.Glu6_Ala7insIleThrPheTyrLeu
ENST00000611848.1:c.451_452insATTACATTTTATCTT
NM_005359.5:c.1251_1252insATTACATTTTATCTT , LRG_318t1:c.1251_1252insATTACATTTTATCTT	NP_005350.1:p.Glu417_Ala418insIleThrPheTyrLeu
NM_005359.6:c.1251_1252insATTACATTTTATCTT MANE Select	NP_005350.1:p.Glu417_Ala418insIleThrPheTyrLeu