Canonical Allele Identifier: CA629926730

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 628132
• ClinVar RCV Id: RCV000772442
• dbSNP Id: rs1176679575
• gnomAD v2: 18-48604841-CTT-C
• gnomAD v3: 18-51078471-CTT-C
• gnomAD v4: 18-51078471-CTT-C
• MyVariant Identifiers: chr18:g.48604842_48604843del (hg19) ; chr18:g.51078472_51078473del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078474_51078475del , CM000680.2:g.51078474_51078475del	GRCh38
NC_000018.9:g.48604844_48604845del , CM000680.1:g.48604844_48604845del	GRCh37
NC_000018.8:g.46858842_46858843del	NCBI36
NG_013013.2:g.115435_115436del , LRG_318:g.115435_115436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*7_*8del	ENSP00000465878.2:n.*7_*8del
ENST00000589076.6:c.*7_*8del	ENSP00000466934.2:n.*7_*8del
ENST00000589941.2:c.*7_*8del	ENSP00000465874.2:n.*7_*8del
ENST00000590061.2:c.*7_*8del	ENSP00000464772.2:n.*7_*8del
ENST00000593223.2:c.*1663_*1664del	ENSP00000466118.2:n.*1663_*1664del
ENST00000611848.2:c.*318_*319del	ENSP00000478613.2:n.*318_*319del
ENST00000684953.1:n.3681_3682del
ENST00000685090.1:n.3596_3597del
ENST00000685232.1:n.1887_1888del
ENST00000688574.1:n.1774_1775del
ENST00000691124.1:n.4627_4628del
ENST00000342988.8:c.*7_*8del MANE Select	ENSP00000341551.3:n.*7_*8del
ENST00000342988.7:c.*7_*8del	ENSP00000341551.3:n.*7_*8del
ENST00000398417.6:c.*7_*8del	ENSP00000381452.1:n.*7_*8del
ENST00000586253.1:n.388_389del
ENST00000591126.5:n.3667_3668del
ENST00000611848.1:c.979_980del
NM_005359.5:c.*7_*8del , LRG_318t1:c.*7_*8del	NP_005350.1:n.*7_*8del
NM_005359.6:c.*7_*8del MANE Select	NP_005350.1:n.*7_*8del