Canonical Allele Identifier: CA916081941

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 847904
• ClinVar RCV Id: RCV002400294 ; RCV001051545 ; RCV003473644
• dbSNP Id: rs1910522327

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078348_51078349delinsTT , CM000680.2:g.51078348_51078349delinsTT	GRCh38
NC_000018.9:g.48604718_48604719delinsTT , CM000680.1:g.48604718_48604719delinsTT	GRCh37
NC_000018.8:g.46858716_46858717delinsTT	NCBI36
NG_013013.2:g.115309_115310delinsTT , LRG_318:g.115309_115310delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1540_1541delinsTT	ENSP00000465878.2:p.Pro514Leu
ENST00000589076.6:c.1540_1541delinsTT	ENSP00000466934.2:p.Pro514Leu
ENST00000589941.2:c.1540_1541delinsTT	ENSP00000465874.2:p.Pro514Leu
ENST00000590061.2:c.1540_1541delinsTT	ENSP00000464772.2:p.Pro514Leu
ENST00000593223.2:c.*1537_*1538delinsTT	ENSP00000466118.2:n.*1537_*1538delinsTT
ENST00000611848.2:c.*192_*193delinsTT	ENSP00000478613.2:n.*192_*193delinsTT
ENST00000684953.1:n.3555_3556delinsTT
ENST00000685090.1:n.3470_3471delinsTT
ENST00000685232.1:n.1761_1762delinsTT
ENST00000688574.1:n.1648_1649delinsTT
ENST00000691124.1:n.4501_4502delinsTT
ENST00000342988.8:c.1540_1541delinsTT MANE Select	ENSP00000341551.3:p.Pro514Leu
ENST00000342988.7:c.1540_1541delinsTT	ENSP00000341551.3:p.Pro514Leu
ENST00000398417.6:c.1540_1541delinsTT	ENSP00000381452.1:p.Pro514Leu
ENST00000586253.1:n.262_263delinsTT
ENST00000588745.5:c.1252_1253delinsTT	ENSP00000464901.1:p.Pro418Leu
ENST00000591126.5:n.3541_3542delinsTT
ENST00000592186.5:c.1187_1188delinsTT	ENSP00000468611.1:n.1187_1188delinsTT
ENST00000611848.1:c.853_854delinsTT
NM_005359.5:c.1540_1541delinsTT , LRG_318t1:c.1540_1541delinsTT	NP_005350.1:p.Pro514Leu
NM_005359.6:c.1540_1541delinsTT MANE Select	NP_005350.1:p.Pro514Leu