Canonical Allele Identifier: CA2302978046

Gene: SMAD4

Linked Data

• dbSNP Id: rs1909963536

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059998_51059999insAGACAACAAAAATTCCATTT , CM000680.2:g.51059998_51059999insAGACAACAAAAATTCCATTT	GRCh38
NC_000018.9:g.48586368_48586369insAGACAACAAAAATTCCATTT , CM000680.1:g.48586368_48586369insAGACAACAAAAATTCCATTT	GRCh37
NC_000018.8:g.46840366_46840367insAGACAACAAAAATTCCATTT	NCBI36
NG_013013.2:g.96959_96960insAGACAACAAAAATTCCATTT , LRG_318:g.96959_96960insAGACAACAAAAATTCCATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.955+82_955+83insAGACAACAAAAATTCCATTT	ENSP00000465878.2:n.955+82_955+83insAGACAACAAAAATTCCATTT
ENST00000589076.6:c.955+82_955+83insAGACAACAAAAATTCCATTT	ENSP00000466934.2:n.955+82_955+83insAGACAACAAAAATTCCATTT
ENST00000589941.2:c.955+82_955+83insAGACAACAAAAATTCCATTT	ENSP00000465874.2:n.955+82_955+83insAGACAACAAAAATTCCATTT
ENST00000590061.2:c.955+82_955+83insAGACAACAAAAATTCCATTT	ENSP00000464772.2:n.955+82_955+83insAGACAACAAAAATTCCATTT
ENST00000593223.2:c.955+82_955+83insAGACAACAAAAATTCCATTT	ENSP00000466118.2:n.955+82_955+83insAGACAACAAAAATTCCATTT
ENST00000611848.2:c.955+82_955+83insAGACAACAAAAATTCCATTT	ENSP00000478613.2:n.955+82_955+83insAGACAACAAAAATTCCATTT
ENST00000684953.1:n.2327+82_2327+83insAGACAACAAAAATTCCATTT
ENST00000685090.1:n.1406+82_1406+83insAGACAACAAAAATTCCATTT
ENST00000685232.1:n.1063+82_1063+83insAGACAACAAAAATTCCATTT
ENST00000688307.1:n.206+82_206+83insAGACAACAAAAATTCCATTT
ENST00000688574.1:n.1063+82_1063+83insAGACAACAAAAATTCCATTT
ENST00000688903.1:n.1169+82_1169+83insAGACAACAAAAATTCCATTT
ENST00000690892.1:n.1145_1146insAGACAACAAAAATTCCATTT
ENST00000342988.8:c.955+82_955+83insAGACAACAAAAATTCCATTT MANE Select	ENSP00000341551.3:n.955+82_955+83insAGACAACAAAAATTCCATTT
ENST00000342988.7:c.955+82_955+83insAGACAACAAAAATTCCATTT	ENSP00000341551.3:n.955+82_955+83insAGACAACAAAAATTCCATTT
ENST00000398417.6:c.955+82_955+83insAGACAACAAAAATTCCATTT	ENSP00000381452.1:n.955+82_955+83insAGACAACAAAAATTCCATTT
ENST00000588745.5:c.667+5005_667+5006insAGACAACAAAAATTCCATTT	ENSP00000464901.1:n.667+5005_667+5006insAGACAACAAAAATTCCATTT
ENST00000591126.5:n.2956+82_2956+83insAGACAACAAAAATTCCATTT
ENST00000592186.5:c.955+82_955+83insAGACAACAAAAATTCCATTT	ENSP00000468611.1:n.955+82_955+83insAGACAACAAAAATTCCATTT
ENST00000611848.1:c.155+82_155+83insAGACAACAAAAATTCCATTT
NM_005359.5:c.955+82_955+83insAGACAACAAAAATTCCATTT , LRG_318t1:c.955+82_955+83insAGACAACAAAAATTCCATTT	NP_005350.1:n.955+82_955+83insAGACAACAAAAATTCCATTT
NM_005359.6:c.955+82_955+83insAGACAACAAAAATTCCATTT MANE Select	NP_005350.1:n.955+82_955+83insAGACAACAAAAATTCCATTT