Canonical Allele Identifier: CA2580095816

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2018822
• ClinVar RCV Id: RCV002862272
• gnomAD v4: 18-51067001-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067003_51067004del , CM000680.2:g.51067003_51067004del	GRCh38
NC_000018.9:g.48593373_48593374del , CM000680.1:g.48593373_48593374del	GRCh37
NC_000018.8:g.46847371_46847372del	NCBI36
NG_013013.2:g.103964_103965del , LRG_318:g.103964_103965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1140-16_1140-15del	ENSP00000465878.2:n.1140-16_1140-15del
ENST00000589076.6:c.1140-16_1140-15del	ENSP00000466934.2:n.1140-16_1140-15del
ENST00000589941.2:c.1140-16_1140-15del	ENSP00000465874.2:n.1140-16_1140-15del
ENST00000590061.2:c.1140-16_1140-15del	ENSP00000464772.2:n.1140-16_1140-15del
ENST00000593223.2:c.1140-16_1140-15del	ENSP00000466118.2:n.1140-16_1140-15del
ENST00000611848.2:c.1140-16_1140-15del	ENSP00000478613.2:n.1140-16_1140-15del
ENST00000684953.1:n.2512-16_2512-15del
ENST00000685090.1:n.1591-16_1591-15del
ENST00000685232.1:n.1248-16_1248-15del
ENST00000688574.1:n.1248-16_1248-15del
ENST00000691124.1:n.2622-16_2622-15del
ENST00000342988.8:c.1140-16_1140-15del MANE Select	ENSP00000341551.3:n.1140-16_1140-15del
ENST00000342988.7:c.1140-16_1140-15del	ENSP00000341551.3:n.1140-16_1140-15del
ENST00000398417.6:c.1140-16_1140-15del	ENSP00000381452.1:n.1140-16_1140-15del
ENST00000588745.5:c.852-16_852-15del	ENSP00000464901.1:n.852-16_852-15del
ENST00000590499.1:n.182_183del
ENST00000591126.5:n.3141-16_3141-15del
ENST00000592186.5:c.955+7087_955+7088del	ENSP00000468611.1:n.955+7087_955+7088del
ENST00000611848.1:c.340-16_340-15del
NM_005359.5:c.1140-16_1140-15del , LRG_318t1:c.1140-16_1140-15del	NP_005350.1:n.1140-16_1140-15del
NM_005359.6:c.1140-16_1140-15del MANE Select	NP_005350.1:n.1140-16_1140-15del