Canonical Allele Identifier: CA2302981536

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910183579

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067122_51067123insGAAGA , CM000680.2:g.51067122_51067123insGAAGA	GRCh38
NC_000018.9:g.48593492_48593493insGAAGA , CM000680.1:g.48593492_48593493insGAAGA	GRCh37
NC_000018.8:g.46847490_46847491insGAAGA	NCBI36
NG_013013.2:g.104083_104084insGAAGA , LRG_318:g.104083_104084insGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1243_1244insGAAGA	ENSP00000465878.2:p.Asp415GlyfsTer23
ENST00000589076.6:c.1243_1244insGAAGA	ENSP00000466934.2:p.Asp415GlyfsTer23
ENST00000589941.2:c.1243_1244insGAAGA	ENSP00000465874.2:p.Asp415GlyfsTer23
ENST00000590061.2:c.1243_1244insGAAGA	ENSP00000464772.2:p.Asp415GlyfsTer23
ENST00000593223.2:c.1243_1244insGAAGA	ENSP00000466118.2:p.Asp415GlyfsTer23
ENST00000611848.2:c.1243_1244insGAAGA	ENSP00000478613.2:p.Asp415GlyfsTer23
ENST00000684953.1:n.2615_2616insGAAGA
ENST00000685090.1:n.1694_1695insGAAGA
ENST00000685232.1:n.1351_1352insGAAGA
ENST00000688574.1:n.1351_1352insGAAGA
ENST00000691124.1:n.2725_2726insGAAGA
ENST00000342988.8:c.1243_1244insGAAGA MANE Select	ENSP00000341551.3:p.Asp415GlyfsTer23
ENST00000342988.7:c.1243_1244insGAAGA	ENSP00000341551.3:p.Asp415GlyfsTer23
ENST00000398417.6:c.1243_1244insGAAGA	ENSP00000381452.1:p.Asp415GlyfsTer23
ENST00000588745.5:c.955_956insGAAGA	ENSP00000464901.1:p.Asp319GlyfsTer23
ENST00000590499.1:n.301_302insGAAGA
ENST00000591126.5:n.3244_3245insGAAGA
ENST00000592186.5:c.955+7206_955+7207insGAAGA	ENSP00000468611.1:n.955+7206_955+7207insGAAGA
ENST00000593223.1:c.10_11insGAAGA	ENSP00000466118.1:p.Asp4GlyfsTer23
ENST00000611848.1:c.443_444insGAAGA
NM_005359.5:c.1243_1244insGAAGA , LRG_318t1:c.1243_1244insGAAGA	NP_005350.1:p.Asp415GlyfsTer23
NM_005359.6:c.1243_1244insGAAGA MANE Select	NP_005350.1:p.Asp415GlyfsTer23