Canonical Allele Identifier: CA270878

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078355dup , CM000680.2:g.51078355dup	GRCh38
NC_000018.9:g.48604725dup , CM000680.1:g.48604725dup	GRCh37
NC_000018.8:g.46858723dup	NCBI36
NG_013013.2:g.115316dup , LRG_318:g.115316dup

Transcript Alleles

HGVS	Amino-acid Change
NM_005359.6:c.1547dup MANE Select	NP_005350.1:p.Ser517GlufsTer10
ENST00000342988.8:c.1547dup MANE Select	ENSP00000341551.3:p.Ser517GlufsTer10
NM_005359.5:c.1547dup , LRG_318t1:c.1547dup	NP_005350.1:p.Ser517GlufsTer10
ENST00000342988.7:c.1547dup	ENSP00000341551.3:p.Ser517GlufsTer10
ENST00000398417.6:c.1547dup	ENSP00000381452.1:p.Ser517GlufsTer10
ENST00000586253.1:n.269dup
ENST00000588745.5:c.1259dup	ENSP00000464901.1:p.Ser421GlufsTer10
ENST00000588860.6:c.1547dup	ENSP00000465878.2:p.Ser517GlufsTer10
ENST00000589076.6:c.1547dup	ENSP00000466934.2:p.Ser517GlufsTer10
ENST00000589941.2:c.1547dup	ENSP00000465874.2:p.Ser517GlufsTer10
ENST00000590061.2:c.1547dup	ENSP00000464772.2:p.Ser517GlufsTer10
ENST00000591126.5:n.3548dup
ENST00000592186.5:c.1194dup	ENSP00000468611.1:n.1194dup
ENST00000593223.2:c.*1544dup	ENSP00000466118.2:n.*1544dup
ENST00000611848.1:c.860dup
ENST00000611848.2:c.*199dup	ENSP00000478613.2:n.*199dup
ENST00000684953.1:n.3562dup
ENST00000685090.1:n.3477dup
ENST00000685232.1:n.1768dup
ENST00000688574.1:n.1655dup
ENST00000691124.1:n.4508dup