Canonical Allele Identifier: CA915951542

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 808397
• ClinVar RCV Id: RCV000996688
• dbSNP Id: rs864622252

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078322_51078323del , CM000680.2:g.51078322_51078323del	GRCh38
NC_000018.9:g.48604692_48604693del , CM000680.1:g.48604692_48604693del	GRCh37
NC_000018.8:g.46858690_46858691del	NCBI36
NG_013013.2:g.115283_115284del , LRG_318:g.115283_115284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1514_1515del	ENSP00000465878.2:p.Phe505CysfsTer21
ENST00000589076.6:c.1514_1515del	ENSP00000466934.2:p.Phe505CysfsTer21
ENST00000589941.2:c.1514_1515del	ENSP00000465874.2:p.Phe505CysfsTer21
ENST00000590061.2:c.1514_1515del	ENSP00000464772.2:p.Phe505CysfsTer21
ENST00000593223.2:c.*1511_*1512del	ENSP00000466118.2:n.*1511_*1512del
ENST00000611848.2:c.*166_*167del	ENSP00000478613.2:n.*166_*167del
ENST00000684953.1:n.3529_3530del
ENST00000685090.1:n.3444_3445del
ENST00000685232.1:n.1735_1736del
ENST00000688574.1:n.1622_1623del
ENST00000691124.1:n.4475_4476del
ENST00000342988.8:c.1514_1515del MANE Select	ENSP00000341551.3:p.Phe505CysfsTer21
ENST00000342988.7:c.1514_1515del	ENSP00000341551.3:p.Phe505CysfsTer21
ENST00000398417.6:c.1514_1515del	ENSP00000381452.1:p.Phe505CysfsTer21
ENST00000586253.1:n.236_237del
ENST00000588745.5:c.1226_1227del	ENSP00000464901.1:p.Phe409CysfsTer21
ENST00000591126.5:n.3515_3516del
ENST00000592186.5:c.1161_1162del	ENSP00000468611.1:n.1161_1162del
ENST00000611848.1:c.827_828del
NM_005359.5:c.1514_1515del , LRG_318t1:c.1514_1515del	NP_005350.1:p.Phe505CysfsTer21
NM_005359.6:c.1514_1515del MANE Select	NP_005350.1:p.Phe505CysfsTer21