Canonical Allele Identifier: CA2641838256

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51059916-G-GCTCCTGAGTATTGGTGTTCCATTGCTTACTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059916_51059917insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT , CM000680.2:g.51059916_51059917insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	GRCh38
NC_000018.9:g.48586286_48586287insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT , CM000680.1:g.48586286_48586287insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	GRCh37
NC_000018.8:g.46840284_46840285insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	NCBI36
NG_013013.2:g.96877_96878insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT , LRG_318:g.96877_96878insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	ENSP00000465878.2:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTAC...
ENST00000589076.6:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	ENSP00000466934.2:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTAC...
ENST00000589941.2:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	ENSP00000465874.2:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTAC...
ENST00000590061.2:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	ENSP00000464772.2:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTAC...
ENST00000593223.2:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	ENSP00000466118.2:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTAC...
ENST00000611848.2:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	ENSP00000478613.2:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTAC...
ENST00000684953.1:n.2327_2327+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT
ENST00000685090.1:n.1406_1406+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT
ENST00000685232.1:n.1063_1063+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT
ENST00000688307.1:n.206_206+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT
ENST00000688574.1:n.1063_1063+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT
ENST00000688903.1:n.1169_1169+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT
ENST00000690892.1:n.1063_1064insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT
ENST00000342988.8:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT MANE Select	ENSP00000341551.3:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTAC...
ENST00000342988.7:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	ENSP00000341551.3:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTAC...
ENST00000398417.6:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	ENSP00000381452.1:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTAC...
ENST00000588745.5:c.667+4923_667+4924insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	ENSP00000464901.1:n.667+4923_667+4924insCTCCTGAGTATTGGTGTTCCA...
ENST00000591126.5:n.2956_2956+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT
ENST00000592186.5:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	ENSP00000468611.1:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTAC...
ENST00000611848.1:c.155_155+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT
NM_005359.5:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT , LRG_318t1:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT	NP_005350.1:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT
NM_005359.6:c.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT MANE Select	NP_005350.1:n.955_955+1insCTCCTGAGTATTGGTGTTCCATTGCTTACTTT