Canonical Allele Identifier: CA2695227617

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067092dup , CM000680.2:g.51067092dup	GRCh38
NC_000018.9:g.48593462dup , CM000680.1:g.48593462dup	GRCh37
NC_000018.8:g.46847460dup	NCBI36
NG_013013.2:g.104053dup , LRG_318:g.104053dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1213dup	ENSP00000465878.2:p.His405ProfsTer24
ENST00000589076.6:c.1213dup	ENSP00000466934.2:p.His405ProfsTer24
ENST00000589941.2:c.1213dup	ENSP00000465874.2:p.His405ProfsTer24
ENST00000590061.2:c.1213dup	ENSP00000464772.2:p.His405ProfsTer24
ENST00000593223.2:c.1213dup	ENSP00000466118.2:p.His405ProfsTer24
ENST00000611848.2:c.1213dup	ENSP00000478613.2:p.His405ProfsTer24
ENST00000684953.1:n.2585dup
ENST00000685090.1:n.1664dup
ENST00000685232.1:n.1321dup
ENST00000688574.1:n.1321dup
ENST00000691124.1:n.2695dup
ENST00000342988.8:c.1213dup MANE Select	ENSP00000341551.3:p.His405ProfsTer24
ENST00000342988.7:c.1213dup	ENSP00000341551.3:p.His405ProfsTer24
ENST00000398417.6:c.1213dup	ENSP00000381452.1:p.His405ProfsTer24
ENST00000588745.5:c.925dup	ENSP00000464901.1:p.His309ProfsTer24
ENST00000590499.1:n.271dup
ENST00000591126.5:n.3214dup
ENST00000592186.5:c.955+7176dup	ENSP00000468611.1:n.955+7176dup
ENST00000611848.1:c.413dup
NM_005359.5:c.1213dup , LRG_318t1:c.1213dup	NP_005350.1:p.His405ProfsTer24
NM_005359.6:c.1213dup MANE Select	NP_005350.1:p.His405ProfsTer24