Canonical Allele Identifier: CA2812466430

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078523del , CM000680.2:g.51078523del	GRCh38
NC_000018.9:g.48604893del , CM000680.1:g.48604893del	GRCh37
NC_000018.8:g.46858891del	NCBI36
NG_013013.2:g.115484del , LRG_318:g.115484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*56del	ENSP00000465878.2:n.*56del
ENST00000589076.6:c.*56del	ENSP00000466934.2:n.*56del
ENST00000589941.2:c.*56del	ENSP00000465874.2:n.*56del
ENST00000590061.2:c.*56del	ENSP00000464772.2:n.*56del
ENST00000593223.2:c.*1712del	ENSP00000466118.2:n.*1712del
ENST00000611848.2:c.*367del	ENSP00000478613.2:n.*367del
ENST00000684953.1:n.3730del
ENST00000685090.1:n.3645del
ENST00000685232.1:n.1936del
ENST00000688574.1:n.1823del
ENST00000691124.1:n.4676del
ENST00000342988.8:c.*56del MANE Select	ENSP00000341551.3:n.*56del
ENST00000342988.7:c.*56del	ENSP00000341551.3:n.*56del
ENST00000398417.6:c.*56del	ENSP00000381452.1:n.*56del
ENST00000586253.1:n.437del
ENST00000591126.5:n.3716del
ENST00000611848.1:c.1028del
NM_005359.5:c.*56del , LRG_318t1:c.*56del	NP_005350.1:n.*56del
NM_005359.6:c.*56del MANE Select	NP_005350.1:n.*56del