Canonical Allele Identifier: CA2641838083

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51058069-A-AAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058071_51058074dup , CM000680.2:g.51058071_51058074dup	GRCh38
NC_000018.9:g.48584441_48584444dup , CM000680.1:g.48584441_48584444dup	GRCh37
NC_000018.8:g.46838439_46838442dup	NCBI36
NG_013013.2:g.95032_95035dup , LRG_318:g.95032_95035dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.668-54_668-51dup	ENSP00000465878.2:n.668-54_668-51dup
ENST00000589076.6:c.668-54_668-51dup	ENSP00000466934.2:n.668-54_668-51dup
ENST00000589941.2:c.668-54_668-51dup	ENSP00000465874.2:n.668-54_668-51dup
ENST00000590061.2:c.668-54_668-51dup	ENSP00000464772.2:n.668-54_668-51dup
ENST00000593223.2:c.668-54_668-51dup	ENSP00000466118.2:n.668-54_668-51dup
ENST00000611848.2:c.668-54_668-51dup	ENSP00000478613.2:n.668-54_668-51dup
ENST00000684953.1:n.2040-54_2040-51dup
ENST00000685232.1:n.722_725dup
ENST00000688307.1:n.156-1795_156-1792dup
ENST00000688574.1:n.722_725dup
ENST00000688903.1:n.828_831dup
ENST00000690892.1:n.722_725dup
ENST00000342988.8:c.668-54_668-51dup MANE Select	ENSP00000341551.3:n.668-54_668-51dup
ENST00000342988.7:c.668-54_668-51dup	ENSP00000341551.3:n.668-54_668-51dup
ENST00000398417.6:c.668-54_668-51dup	ENSP00000381452.1:n.668-54_668-51dup
ENST00000588745.5:c.667+3078_667+3081dup	ENSP00000464901.1:n.667+3078_667+3081dup
ENST00000590722.2:c.*844-54_*844-51dup	ENSP00000465737.1:n.*844-54_*844-51dup
ENST00000591126.5:n.2669-54_2669-51dup
ENST00000592186.5:c.668-54_668-51dup	ENSP00000468611.1:n.668-54_668-51dup
ENST00000592911.5:n.446-54_446-51dup
NM_005359.5:c.668-54_668-51dup , LRG_318t1:c.668-54_668-51dup	NP_005350.1:n.668-54_668-51dup
NM_005359.6:c.668-54_668-51dup MANE Select	NP_005350.1:n.668-54_668-51dup