Canonical Allele Identifier: CA2580095828

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1757479
• ClinVar RCV Id: RCV002378398

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067118_51067121del , CM000680.2:g.51067118_51067121del	GRCh38
NC_000018.9:g.48593488_48593491del , CM000680.1:g.48593488_48593491del	GRCh37
NC_000018.8:g.46847486_46847489del	NCBI36
NG_013013.2:g.104079_104082del , LRG_318:g.104079_104082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1239_1242del	ENSP00000465878.2:p.Tyr413Ter
ENST00000589076.6:c.1239_1242del	ENSP00000466934.2:p.Tyr413Ter
ENST00000589941.2:c.1239_1242del	ENSP00000465874.2:p.Tyr413Ter
ENST00000590061.2:c.1239_1242del	ENSP00000464772.2:p.Tyr413Ter
ENST00000593223.2:c.1239_1242del	ENSP00000466118.2:p.Tyr413Ter
ENST00000611848.2:c.1239_1242del	ENSP00000478613.2:p.Tyr413Ter
ENST00000684953.1:n.2611_2614del
ENST00000685090.1:n.1690_1693del
ENST00000685232.1:n.1347_1350del
ENST00000688574.1:n.1347_1350del
ENST00000691124.1:n.2721_2724del
ENST00000342988.8:c.1239_1242del MANE Select	ENSP00000341551.3:p.Tyr413Ter
ENST00000342988.7:c.1239_1242del	ENSP00000341551.3:p.Tyr413Ter
ENST00000398417.6:c.1239_1242del	ENSP00000381452.1:p.Tyr413Ter
ENST00000588745.5:c.951_954del	ENSP00000464901.1:p.Tyr317Ter
ENST00000590499.1:n.297_300del
ENST00000591126.5:n.3240_3243del
ENST00000592186.5:c.955+7202_955+7205del	ENSP00000468611.1:n.955+7202_955+7205del
ENST00000593223.1:c.6_9del	ENSP00000466118.1:p.Tyr2Ter
ENST00000611848.1:c.439_442del
NM_005359.5:c.1239_1242del , LRG_318t1:c.1239_1242del	NP_005350.1:p.Tyr413Ter
NM_005359.6:c.1239_1242del MANE Select	NP_005350.1:p.Tyr413Ter