Canonical Allele Identifier: CA2302978111

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51060117_51060122delinsCAAAAG , CM000680.2:g.51060117_51060122delinsCAAAAG	GRCh38
NC_000018.9:g.48586487_48586492delinsCAAAAG , CM000680.1:g.48586487_48586492delinsCAAAAG	GRCh37
NC_000018.8:g.46840485_46840490delinsCAAAAG	NCBI36
NG_013013.2:g.97078_97083delinsCAAAAG , LRG_318:g.97078_97083delinsCAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.955+201_955+206delinsCAAAAG	ENSP00000465878.2:n.955+201_955+206delinsCAAAAG
ENST00000589076.6:c.955+201_955+206delinsCAAAAG	ENSP00000466934.2:n.955+201_955+206delinsCAAAAG
ENST00000589941.2:c.955+201_955+206delinsCAAAAG	ENSP00000465874.2:n.955+201_955+206delinsCAAAAG
ENST00000590061.2:c.955+201_955+206delinsCAAAAG	ENSP00000464772.2:n.955+201_955+206delinsCAAAAG
ENST00000593223.2:c.955+201_955+206delinsCAAAAG	ENSP00000466118.2:n.955+201_955+206delinsCAAAAG
ENST00000611848.2:c.955+201_955+206delinsCAAAAG	ENSP00000478613.2:n.955+201_955+206delinsCAAAAG
ENST00000684953.1:n.2327+201_2327+206delinsCAAAAG
ENST00000685090.1:n.1406+201_1406+206delinsCAAAAG
ENST00000685232.1:n.1063+201_1063+206delinsCAAAAG
ENST00000688307.1:n.206+201_206+206delinsCAAAAG
ENST00000688574.1:n.1063+201_1063+206delinsCAAAAG
ENST00000688903.1:n.1169+201_1169+206delinsCAAAAG
ENST00000342988.8:c.955+201_955+206delinsCAAAAG MANE Select	ENSP00000341551.3:n.955+201_955+206delinsCAAAAG
ENST00000342988.7:c.955+201_955+206delinsCAAAAG	ENSP00000341551.3:n.955+201_955+206delinsCAAAAG
ENST00000398417.6:c.955+201_955+206delinsCAAAAG	ENSP00000381452.1:n.955+201_955+206delinsCAAAAG
ENST00000588745.5:c.667+5124_667+5129delinsCAAAAG	ENSP00000464901.1:n.667+5124_667+5129delinsCAAAAG
ENST00000591126.5:n.2956+201_2956+206delinsCAAAAG
ENST00000592186.5:c.955+201_955+206delinsCAAAAG	ENSP00000468611.1:n.955+201_955+206delinsCAAAAG
ENST00000611848.1:c.155+201_155+206delinsCAAAAG
NM_005359.5:c.955+201_955+206delinsCAAAAG , LRG_318t1:c.955+201_955+206delinsCAAAAG	NP_005350.1:n.955+201_955+206delinsCAAAAG
NM_005359.6:c.955+201_955+206delinsCAAAAG MANE Select	NP_005350.1:n.955+201_955+206delinsCAAAAG