Canonical Allele Identifier: CA658658748

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 460529
• ClinVar RCV Id: RCV002231355
• dbSNP Id: rs1555686600
• MyVariant Identifiers: chr18:g.48593415_48593416del (hg19) ; chr18:g.51067045_51067046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067045_51067046del , CM000680.2:g.51067045_51067046del	GRCh38
NC_000018.9:g.48593415_48593416del , CM000680.1:g.48593415_48593416del	GRCh37
NC_000018.8:g.46847413_46847414del	NCBI36
NG_013013.2:g.104006_104007del , LRG_318:g.104006_104007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1166_1167del	ENSP00000465878.2:p.Leu389Ter
ENST00000589076.6:c.1166_1167del	ENSP00000466934.2:p.Leu389Ter
ENST00000589941.2:c.1166_1167del	ENSP00000465874.2:p.Leu389Ter
ENST00000590061.2:c.1166_1167del	ENSP00000464772.2:p.Leu389Ter
ENST00000593223.2:c.1166_1167del	ENSP00000466118.2:p.Leu389Ter
ENST00000611848.2:c.1166_1167del	ENSP00000478613.2:p.Leu389Ter
ENST00000684953.1:n.2538_2539del
ENST00000685090.1:n.1617_1618del
ENST00000685232.1:n.1274_1275del
ENST00000688574.1:n.1274_1275del
ENST00000691124.1:n.2648_2649del
ENST00000342988.8:c.1166_1167del MANE Select	ENSP00000341551.3:p.Leu389Ter
ENST00000342988.7:c.1166_1167del	ENSP00000341551.3:p.Leu389Ter
ENST00000398417.6:c.1166_1167del	ENSP00000381452.1:p.Leu389Ter
ENST00000588745.5:c.878_879del	ENSP00000464901.1:p.Leu293Ter
ENST00000590499.1:n.224_225del
ENST00000591126.5:n.3167_3168del
ENST00000592186.5:c.955+7129_955+7130del	ENSP00000468611.1:n.955+7129_955+7130del
ENST00000611848.1:c.366_367del
NM_005359.5:c.1166_1167del , LRG_318t1:c.1166_1167del	NP_005350.1:p.Leu389Ter
NM_005359.6:c.1166_1167del MANE Select	NP_005350.1:p.Leu389Ter