Canonical Allele Identifier: CA2302978102

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51060096_51060099delinsTTTA , CM000680.2:g.51060096_51060099delinsTTTA	GRCh38
NC_000018.9:g.48586466_48586469delinsTTTA , CM000680.1:g.48586466_48586469delinsTTTA	GRCh37
NC_000018.8:g.46840464_46840467delinsTTTA	NCBI36
NG_013013.2:g.97057_97060delinsTTTA , LRG_318:g.97057_97060delinsTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.955+180_955+183delinsTTTA	ENSP00000465878.2:n.955+180_955+183delinsTTTA
ENST00000589076.6:c.955+180_955+183delinsTTTA	ENSP00000466934.2:n.955+180_955+183delinsTTTA
ENST00000589941.2:c.955+180_955+183delinsTTTA	ENSP00000465874.2:n.955+180_955+183delinsTTTA
ENST00000590061.2:c.955+180_955+183delinsTTTA	ENSP00000464772.2:n.955+180_955+183delinsTTTA
ENST00000593223.2:c.955+180_955+183delinsTTTA	ENSP00000466118.2:n.955+180_955+183delinsTTTA
ENST00000611848.2:c.955+180_955+183delinsTTTA	ENSP00000478613.2:n.955+180_955+183delinsTTTA
ENST00000684953.1:n.2327+180_2327+183delinsTTTA
ENST00000685090.1:n.1406+180_1406+183delinsTTTA
ENST00000685232.1:n.1063+180_1063+183delinsTTTA
ENST00000688307.1:n.206+180_206+183delinsTTTA
ENST00000688574.1:n.1063+180_1063+183delinsTTTA
ENST00000688903.1:n.1169+180_1169+183delinsTTTA
ENST00000342988.8:c.955+180_955+183delinsTTTA MANE Select	ENSP00000341551.3:n.955+180_955+183delinsTTTA
ENST00000342988.7:c.955+180_955+183delinsTTTA	ENSP00000341551.3:n.955+180_955+183delinsTTTA
ENST00000398417.6:c.955+180_955+183delinsTTTA	ENSP00000381452.1:n.955+180_955+183delinsTTTA
ENST00000588745.5:c.667+5103_667+5106delinsTTTA	ENSP00000464901.1:n.667+5103_667+5106delinsTTTA
ENST00000591126.5:n.2956+180_2956+183delinsTTTA
ENST00000592186.5:c.955+180_955+183delinsTTTA	ENSP00000468611.1:n.955+180_955+183delinsTTTA
ENST00000611848.1:c.155+180_155+183delinsTTTA
NM_005359.5:c.955+180_955+183delinsTTTA , LRG_318t1:c.955+180_955+183delinsTTTA	NP_005350.1:n.955+180_955+183delinsTTTA
NM_005359.6:c.955+180_955+183delinsTTTA MANE Select	NP_005350.1:n.955+180_955+183delinsTTTA