Canonical Allele Identifier: CA915951532

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 801282
• ClinVar RCV Id: RCV000986030
• dbSNP Id: rs1599189787

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058374_51058375delinsCG , CM000680.2:g.51058374_51058375delinsCG	GRCh38
NC_000018.9:g.48584744_48584745delinsCG , CM000680.1:g.48584744_48584745delinsCG	GRCh37
NC_000018.8:g.46838742_46838743delinsCG	NCBI36
NG_013013.2:g.95335_95336delinsCG , LRG_318:g.95335_95336delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.822_823delinsCG	ENSP00000465878.2:p.Pro275Ala
ENST00000589076.6:c.822_823delinsCG	ENSP00000466934.2:p.Pro275Ala
ENST00000589941.2:c.822_823delinsCG	ENSP00000465874.2:p.Pro275Ala
ENST00000590061.2:c.822_823delinsCG	ENSP00000464772.2:p.Pro275Ala
ENST00000593223.2:c.822_823delinsCG	ENSP00000466118.2:p.Pro275Ala
ENST00000611848.2:c.822_823delinsCG	ENSP00000478613.2:p.Pro275Ala
ENST00000684953.1:n.2194_2195delinsCG
ENST00000685232.1:n.930_931delinsCG
ENST00000688307.1:n.156-1492_156-1491delinsCG
ENST00000688574.1:n.930_931delinsCG
ENST00000688903.1:n.1036_1037delinsCG
ENST00000690892.1:n.930_931delinsCG
ENST00000342988.8:c.822_823delinsCG MANE Select	ENSP00000341551.3:p.Pro275Ala
ENST00000342988.7:c.822_823delinsCG	ENSP00000341551.3:p.Pro275Ala
ENST00000398417.6:c.822_823delinsCG	ENSP00000381452.1:p.Pro275Ala
ENST00000588745.5:c.667+3381_667+3382delinsCG	ENSP00000464901.1:n.667+3381_667+3382delinsCG
ENST00000591126.5:n.2823_2824delinsCG
ENST00000592186.5:c.822_823delinsCG	ENSP00000468611.1:p.Pro275Ala
ENST00000611848.1:c.22_23delinsCG
NM_005359.5:c.822_823delinsCG , LRG_318t1:c.822_823delinsCG	NP_005350.1:p.Pro275Ala
NM_005359.6:c.822_823delinsCG MANE Select	NP_005350.1:p.Pro275Ala