Canonical Allele Identifier: CA2302978003

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059915_51059916delinsTG , CM000680.2:g.51059915_51059916delinsTG	GRCh38
NC_000018.9:g.48586285_48586286delinsTG , CM000680.1:g.48586285_48586286delinsTG	GRCh37
NC_000018.8:g.46840283_46840284delinsTG	NCBI36
NG_013013.2:g.96876_96877delinsTG , LRG_318:g.96876_96877delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.954_955delinsTG	ENSP00000465878.2:p.Pro318=
ENST00000589076.6:c.954_955delinsTG	ENSP00000466934.2:p.Pro318=
ENST00000589941.2:c.954_955delinsTG	ENSP00000465874.2:p.Pro318=
ENST00000590061.2:c.954_955delinsTG	ENSP00000464772.2:p.Pro318=
ENST00000593223.2:c.954_955delinsTG	ENSP00000466118.2:p.Pro318=
ENST00000611848.2:c.954_955delinsTG	ENSP00000478613.2:p.Pro318=
ENST00000684953.1:n.2326_2327delinsTG
ENST00000685090.1:n.1405_1406delinsTG
ENST00000685232.1:n.1062_1063delinsTG
ENST00000688307.1:n.205_206delinsTG
ENST00000688574.1:n.1062_1063delinsTG
ENST00000688903.1:n.1168_1169delinsTG
ENST00000690892.1:n.1062_1063delinsTG
ENST00000342988.8:c.954_955delinsTG MANE Select	ENSP00000341551.3:p.Pro318=
ENST00000342988.7:c.954_955delinsTG	ENSP00000341551.3:p.Pro318=
ENST00000398417.6:c.954_955delinsTG	ENSP00000381452.1:p.Pro318=
ENST00000588745.5:c.667+4922_667+4923delinsTG	ENSP00000464901.1:n.667+4922_667+4923delinsTG
ENST00000591126.5:n.2955_2956delinsTG
ENST00000592186.5:c.954_955delinsTG	ENSP00000468611.1:p.Pro318=
ENST00000611848.1:c.154_155delinsTG
NM_005359.5:c.954_955delinsTG , LRG_318t1:c.954_955delinsTG	NP_005350.1:p.Pro318=
NM_005359.6:c.954_955delinsTG MANE Select	NP_005350.1:p.Pro318=