Canonical Allele Identifier: CA2812466438

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078685_51078687del , CM000680.2:g.51078685_51078687del	GRCh38
NC_000018.9:g.48605055_48605057del , CM000680.1:g.48605055_48605057del	GRCh37
NC_000018.8:g.46859053_46859055del	NCBI36
NG_013013.2:g.115646_115648del , LRG_318:g.115646_115648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*218_*220del	ENSP00000465878.2:n.*218_*220del
ENST00000589076.6:c.*218_*220del	ENSP00000466934.2:n.*218_*220del
ENST00000589941.2:c.*218_*220del	ENSP00000465874.2:n.*218_*220del
ENST00000590061.2:c.*218_*220del	ENSP00000464772.2:n.*218_*220del
ENST00000593223.2:c.*1874_*1876del	ENSP00000466118.2:n.*1874_*1876del
ENST00000611848.2:c.*529_*531del	ENSP00000478613.2:n.*529_*531del
ENST00000684953.1:n.3892_3894del
ENST00000685090.1:n.3807_3809del
ENST00000685232.1:n.2098_2100del
ENST00000688574.1:n.1985_1987del
ENST00000691124.1:n.4838_4840del
ENST00000342988.8:c.*218_*220del MANE Select	ENSP00000341551.3:n.*218_*220del
ENST00000342988.7:c.*218_*220del	ENSP00000341551.3:n.*218_*220del
ENST00000398417.6:c.*218_*220del	ENSP00000381452.1:n.*218_*220del
ENST00000586253.1:n.599_601del
ENST00000591126.5:n.3878_3880del
ENST00000611848.1:c.1190_1192del
NM_005359.5:c.*218_*220del , LRG_318t1:c.*218_*220del	NP_005350.1:n.*218_*220del
NM_005359.6:c.*218_*220del MANE Select	NP_005350.1:n.*218_*220del