Canonical Allele Identifier: CA2735215743

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144428615

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058368_51058369insCTCTCGTT , CM000680.2:g.51058368_51058369insCTCTCGTT	GRCh38
NC_000018.9:g.48584738_48584739insCTCTCGTT , CM000680.1:g.48584738_48584739insCTCTCGTT	GRCh37
NC_000018.8:g.46838736_46838737insCTCTCGTT	NCBI36
NG_013013.2:g.95329_95330insCTCTCGTT , LRG_318:g.95329_95330insCTCTCGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.816_817insCTCTCGTT	ENSP00000465878.2:p.Thr273LeufsTer?
ENST00000589076.6:c.816_817insCTCTCGTT	ENSP00000466934.2:p.Thr273LeufsTer?
ENST00000589941.2:c.816_817insCTCTCGTT	ENSP00000465874.2:p.Thr273LeufsTer?
ENST00000590061.2:c.816_817insCTCTCGTT	ENSP00000464772.2:p.Thr273LeufsTer?
ENST00000593223.2:c.816_817insCTCTCGTT	ENSP00000466118.2:p.Thr273LeufsTer?
ENST00000611848.2:c.816_817insCTCTCGTT	ENSP00000478613.2:p.Thr273LeufsTer?
ENST00000684953.1:n.2188_2189insCTCTCGTT
ENST00000685232.1:n.924_925insCTCTCGTT
ENST00000688307.1:n.156-1498_156-1497insCTCTCGTT
ENST00000688574.1:n.924_925insCTCTCGTT
ENST00000688903.1:n.1030_1031insCTCTCGTT
ENST00000690892.1:n.924_925insCTCTCGTT
ENST00000342988.8:c.816_817insCTCTCGTT MANE Select	ENSP00000341551.3:p.Thr273LeufsTer?
ENST00000342988.7:c.816_817insCTCTCGTT	ENSP00000341551.3:p.Thr273LeufsTer?
ENST00000398417.6:c.816_817insCTCTCGTT	ENSP00000381452.1:p.Thr273LeufsTer?
ENST00000588745.5:c.667+3375_667+3376insCTCTCGTT	ENSP00000464901.1:n.667+3375_667+3376insCTCTCGTT
ENST00000591126.5:n.2817_2818insCTCTCGTT
ENST00000592186.5:c.816_817insCTCTCGTT	ENSP00000468611.1:p.Thr273LeufsTer?
ENST00000611848.1:c.16_17insCTCTCGTT
NM_005359.5:c.816_817insCTCTCGTT , LRG_318t1:c.816_817insCTCTCGTT	NP_005350.1:p.Thr273LeufsTer?
NM_005359.6:c.816_817insCTCTCGTT MANE Select	NP_005350.1:p.Thr273LeufsTer?