Canonical Allele Identifier: CA629581593

Gene: SMAD4

Linked Data

• gnomAD v2: 18-48605017-TCC-T
• MyVariant Identifiers: chr18:g.48605018_48605019del (hg19) ; chr18:g.51078648_51078649del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078648_51078649del , CM000680.2:g.51078648_51078649del	GRCh38
NC_000018.9:g.48605018_48605019del , CM000680.1:g.48605018_48605019del	GRCh37
NC_000018.8:g.46859016_46859017del	NCBI36
NG_013013.2:g.115609_115610del , LRG_318:g.115609_115610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*181_*182del	ENSP00000465878.2:n.*181_*182del
ENST00000589076.6:c.*181_*182del	ENSP00000466934.2:n.*181_*182del
ENST00000589941.2:c.*181_*182del	ENSP00000465874.2:n.*181_*182del
ENST00000590061.2:c.*181_*182del	ENSP00000464772.2:n.*181_*182del
ENST00000593223.2:c.*1837_*1838del	ENSP00000466118.2:n.*1837_*1838del
ENST00000611848.2:c.*492_*493del	ENSP00000478613.2:n.*492_*493del
ENST00000684953.1:n.3855_3856del
ENST00000685090.1:n.3770_3771del
ENST00000685232.1:n.2061_2062del
ENST00000688574.1:n.1948_1949del
ENST00000691124.1:n.4801_4802del
ENST00000342988.8:c.*181_*182del MANE Select	ENSP00000341551.3:n.*181_*182del
ENST00000342988.7:c.*181_*182del	ENSP00000341551.3:n.*181_*182del
ENST00000398417.6:c.*181_*182del	ENSP00000381452.1:n.*181_*182del
ENST00000586253.1:n.562_563del
ENST00000591126.5:n.3841_3842del
ENST00000611848.1:c.1153_1154del
NM_005359.5:c.*181_*182del , LRG_318t1:c.*181_*182del	NP_005350.1:n.*181_*182del
NM_005359.6:c.*181_*182del MANE Select	NP_005350.1:n.*181_*182del