Canonical Allele Identifier: CA2302980757

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065633_51065634delinsCT , CM000680.2:g.51065633_51065634delinsCT	GRCh38
NC_000018.9:g.48592003_48592004delinsCT , CM000680.1:g.48592003_48592004delinsCT	GRCh37
NC_000018.8:g.46846001_46846002delinsCT	NCBI36
NG_013013.2:g.102594_102595delinsCT , LRG_318:g.102594_102595delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+27_1139+28delinsCT	ENSP00000465878.2:n.1139+27_1139+28delinsCT
ENST00000589076.6:c.1139+27_1139+28delinsCT	ENSP00000466934.2:n.1139+27_1139+28delinsCT
ENST00000589941.2:c.1139+27_1139+28delinsCT	ENSP00000465874.2:n.1139+27_1139+28delinsCT
ENST00000590061.2:c.1139+27_1139+28delinsCT	ENSP00000464772.2:n.1139+27_1139+28delinsCT
ENST00000593223.2:c.1139+27_1139+28delinsCT	ENSP00000466118.2:n.1139+27_1139+28delinsCT
ENST00000611848.2:c.1139+27_1139+28delinsCT	ENSP00000478613.2:n.1139+27_1139+28delinsCT
ENST00000684953.1:n.2511+27_2511+28delinsCT
ENST00000685090.1:n.1590+27_1590+28delinsCT
ENST00000685232.1:n.1247+27_1247+28delinsCT
ENST00000688307.1:n.417_418delinsCT
ENST00000688574.1:n.1247+27_1247+28delinsCT
ENST00000688903.1:n.1380_1381delinsCT
ENST00000691124.1:n.2621+27_2621+28delinsCT
ENST00000342988.8:c.1139+27_1139+28delinsCT MANE Select	ENSP00000341551.3:n.1139+27_1139+28delinsCT
ENST00000342988.7:c.1139+27_1139+28delinsCT	ENSP00000341551.3:n.1139+27_1139+28delinsCT
ENST00000398417.6:c.1139+27_1139+28delinsCT	ENSP00000381452.1:n.1139+27_1139+28delinsCT
ENST00000588745.5:c.851+27_851+28delinsCT	ENSP00000464901.1:n.851+27_851+28delinsCT
ENST00000591126.5:n.3140+27_3140+28delinsCT
ENST00000592186.5:c.955+5717_955+5718delinsCT	ENSP00000468611.1:n.955+5717_955+5718delinsCT
ENST00000611848.1:c.339+27_339+28delinsCT
NM_005359.5:c.1139+27_1139+28delinsCT , LRG_318t1:c.1139+27_1139+28delinsCT	NP_005350.1:n.1139+27_1139+28delinsCT
NM_005359.6:c.1139+27_1139+28delinsCT MANE Select	NP_005350.1:n.1139+27_1139+28delinsCT