Canonical Allele Identifier: CA2641838285

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51059980-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059984_51059985del , CM000680.2:g.51059984_51059985del	GRCh38
NC_000018.9:g.48586354_48586355del , CM000680.1:g.48586354_48586355del	GRCh37
NC_000018.8:g.46840352_46840353del	NCBI36
NG_013013.2:g.96945_96946del , LRG_318:g.96945_96946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.955+68_955+69del	ENSP00000465878.2:n.955+68_955+69del
ENST00000589076.6:c.955+68_955+69del	ENSP00000466934.2:n.955+68_955+69del
ENST00000589941.2:c.955+68_955+69del	ENSP00000465874.2:n.955+68_955+69del
ENST00000590061.2:c.955+68_955+69del	ENSP00000464772.2:n.955+68_955+69del
ENST00000593223.2:c.955+68_955+69del	ENSP00000466118.2:n.955+68_955+69del
ENST00000611848.2:c.955+68_955+69del	ENSP00000478613.2:n.955+68_955+69del
ENST00000684953.1:n.2327+68_2327+69del
ENST00000685090.1:n.1406+68_1406+69del
ENST00000685232.1:n.1063+68_1063+69del
ENST00000688307.1:n.206+68_206+69del
ENST00000688574.1:n.1063+68_1063+69del
ENST00000688903.1:n.1169+68_1169+69del
ENST00000690892.1:n.1131_1132del
ENST00000342988.8:c.955+68_955+69del MANE Select	ENSP00000341551.3:n.955+68_955+69del
ENST00000342988.7:c.955+68_955+69del	ENSP00000341551.3:n.955+68_955+69del
ENST00000398417.6:c.955+68_955+69del	ENSP00000381452.1:n.955+68_955+69del
ENST00000588745.5:c.667+4991_667+4992del	ENSP00000464901.1:n.667+4991_667+4992del
ENST00000591126.5:n.2956+68_2956+69del
ENST00000592186.5:c.955+68_955+69del	ENSP00000468611.1:n.955+68_955+69del
ENST00000611848.1:c.155+68_155+69del
NM_005359.5:c.955+68_955+69del , LRG_318t1:c.955+68_955+69del	NP_005350.1:n.955+68_955+69del
NM_005359.6:c.955+68_955+69del MANE Select	NP_005350.1:n.955+68_955+69del