Canonical Allele Identifier: CA2580095825

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1801661
• ClinVar RCV Id: RCV003164697

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067112_51067128del , CM000680.2:g.51067112_51067128del	GRCh38
NC_000018.9:g.48593482_48593498del , CM000680.1:g.48593482_48593498del	GRCh37
NC_000018.8:g.46847480_46847496del	NCBI36
NG_013013.2:g.104073_104089del , LRG_318:g.104073_104089del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1233_1249del	ENSP00000465878.2:p.Ser411ArgfsTer12
ENST00000589076.6:c.1233_1249del	ENSP00000466934.2:p.Ser411ArgfsTer12
ENST00000589941.2:c.1233_1249del	ENSP00000465874.2:p.Ser411ArgfsTer12
ENST00000590061.2:c.1233_1249del	ENSP00000464772.2:p.Ser411ArgfsTer12
ENST00000593223.2:c.1233_1249del	ENSP00000466118.2:p.Ser411ArgfsTer12
ENST00000611848.2:c.1233_1249del	ENSP00000478613.2:p.Ser411ArgfsTer12
ENST00000684953.1:n.2605_2621del
ENST00000685090.1:n.1684_1700del
ENST00000685232.1:n.1341_1357del
ENST00000688574.1:n.1341_1357del
ENST00000691124.1:n.2715_2731del
ENST00000342988.8:c.1233_1249del MANE Select	ENSP00000341551.3:p.Ser411ArgfsTer12
ENST00000342988.7:c.1233_1249del	ENSP00000341551.3:p.Ser411ArgfsTer12
ENST00000398417.6:c.1233_1249del	ENSP00000381452.1:p.Ser411ArgfsTer12
ENST00000588745.5:c.945_961del	ENSP00000464901.1:p.Ser315ArgfsTer12
ENST00000590499.1:n.291_307del
ENST00000591126.5:n.3234_3250del
ENST00000592186.5:c.955+7196_955+7212del	ENSP00000468611.1:n.955+7196_955+7212del
ENST00000611848.1:c.433_449del
NM_005359.5:c.1233_1249del , LRG_318t1:c.1233_1249del	NP_005350.1:p.Ser411ArgfsTer12
NM_005359.6:c.1233_1249del MANE Select	NP_005350.1:p.Ser411ArgfsTer12