Canonical Allele Identifier: CA2641838222

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51059809-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059809_51059810insC , CM000680.2:g.51059809_51059810insC	GRCh38
NC_000018.9:g.48586179_48586180insC , CM000680.1:g.48586179_48586180insC	GRCh37
NC_000018.8:g.46840177_46840178insC	NCBI36
NG_013013.2:g.96770_96771insC , LRG_318:g.96770_96771insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.905-57_905-56insC	ENSP00000465878.2:n.905-57_905-56insC
ENST00000589076.6:c.905-57_905-56insC	ENSP00000466934.2:n.905-57_905-56insC
ENST00000589941.2:c.905-57_905-56insC	ENSP00000465874.2:n.905-57_905-56insC
ENST00000590061.2:c.905-57_905-56insC	ENSP00000464772.2:n.905-57_905-56insC
ENST00000593223.2:c.905-57_905-56insC	ENSP00000466118.2:n.905-57_905-56insC
ENST00000611848.2:c.905-57_905-56insC	ENSP00000478613.2:n.905-57_905-56insC
ENST00000684953.1:n.2277-57_2277-56insC
ENST00000685090.1:n.1299_1300insC
ENST00000685232.1:n.1013-57_1013-56insC
ENST00000688307.1:n.156-57_156-56insC
ENST00000688574.1:n.1013-57_1013-56insC
ENST00000688903.1:n.1119-57_1119-56insC
ENST00000690892.1:n.1013-57_1013-56insC
ENST00000342988.8:c.905-57_905-56insC MANE Select	ENSP00000341551.3:n.905-57_905-56insC
ENST00000342988.7:c.905-57_905-56insC	ENSP00000341551.3:n.905-57_905-56insC
ENST00000398417.6:c.905-57_905-56insC	ENSP00000381452.1:n.905-57_905-56insC
ENST00000588745.5:c.667+4816_667+4817insC	ENSP00000464901.1:n.667+4816_667+4817insC...
ENST00000591126.5:n.2906-57_2906-56insC
ENST00000592186.5:c.905-57_905-56insC	ENSP00000468611.1:n.905-57_905-56insC
ENST00000611848.1:c.105-57_105-56insC
NM_005359.5:c.905-57_905-56insC , LRG_318t1:c.905-57_905-56insC	NP_005350.1:n.905-57_905-56insC
NM_005359.6:c.905-57_905-56insC MANE Select	NP_005350.1:n.905-57_905-56insC