Canonical Allele Identifier: CA2812465896

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51060179_51060180insT , CM000680.2:g.51060179_51060180insT	GRCh38
NC_000018.9:g.48586549_48586550insT , CM000680.1:g.48586549_48586550insT	GRCh37
NC_000018.8:g.46840547_46840548insT	NCBI36
NG_013013.2:g.97140_97141insT , LRG_318:g.97140_97141insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.955+263_955+264insT	ENSP00000465878.2:n.955+263_955+264insT
ENST00000589076.6:c.955+263_955+264insT	ENSP00000466934.2:n.955+263_955+264insT
ENST00000589941.2:c.955+263_955+264insT	ENSP00000465874.2:n.955+263_955+264insT
ENST00000590061.2:c.955+263_955+264insT	ENSP00000464772.2:n.955+263_955+264insT
ENST00000593223.2:c.955+263_955+264insT	ENSP00000466118.2:n.955+263_955+264insT
ENST00000611848.2:c.955+263_955+264insT	ENSP00000478613.2:n.955+263_955+264insT
ENST00000684953.1:n.2327+263_2327+264insT
ENST00000685090.1:n.1406+263_1406+264insT
ENST00000685232.1:n.1063+263_1063+264insT
ENST00000688307.1:n.206+263_206+264insT
ENST00000688574.1:n.1063+263_1063+264insT
ENST00000688903.1:n.1169+263_1169+264insT
ENST00000342988.8:c.955+263_955+264insT MANE Select	ENSP00000341551.3:n.955+263_955+264insT
ENST00000342988.7:c.955+263_955+264insT	ENSP00000341551.3:n.955+263_955+264insT
ENST00000398417.6:c.955+263_955+264insT	ENSP00000381452.1:n.955+263_955+264insT
ENST00000588745.5:c.667+5186_667+5187insT	ENSP00000464901.1:n.667+5186_667+5187insT
ENST00000591126.5:n.2956+263_2956+264insT
ENST00000592186.5:c.955+263_955+264insT	ENSP00000468611.1:n.955+263_955+264insT
ENST00000611848.1:c.155+263_155+264insT
NM_005359.5:c.955+263_955+264insT , LRG_318t1:c.955+263_955+264insT	NP_005350.1:n.955+263_955+264insT
NM_005359.6:c.955+263_955+264insT MANE Select	NP_005350.1:n.955+263_955+264insT