Canonical Allele Identifier: CA2302980413

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065437_51065438delinsTG , CM000680.2:g.51065437_51065438delinsTG	GRCh38
NC_000018.9:g.48591807_48591808delinsTG , CM000680.1:g.48591807_48591808delinsTG	GRCh37
NC_000018.8:g.46845805_46845806delinsTG	NCBI36
NG_013013.2:g.102398_102399delinsTG , LRG_318:g.102398_102399delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.970_971delinsTG	ENSP00000465878.2:p.Cys324=
ENST00000589076.6:c.970_971delinsTG	ENSP00000466934.2:p.Cys324=
ENST00000589941.2:c.970_971delinsTG	ENSP00000465874.2:p.Cys324=
ENST00000590061.2:c.970_971delinsTG	ENSP00000464772.2:p.Cys324=
ENST00000593223.2:c.970_971delinsTG	ENSP00000466118.2:p.Cys324=
ENST00000611848.2:c.970_971delinsTG	ENSP00000478613.2:p.Cys324=
ENST00000684953.1:n.2342_2343delinsTG
ENST00000685090.1:n.1421_1422delinsTG
ENST00000685232.1:n.1078_1079delinsTG
ENST00000688307.1:n.221_222delinsTG
ENST00000688574.1:n.1078_1079delinsTG
ENST00000688903.1:n.1184_1185delinsTG
ENST00000691124.1:n.2452_2453delinsTG
ENST00000342988.8:c.970_971delinsTG MANE Select	ENSP00000341551.3:p.Cys324=
ENST00000342988.7:c.970_971delinsTG	ENSP00000341551.3:p.Cys324=
ENST00000398417.6:c.970_971delinsTG	ENSP00000381452.1:p.Cys324=
ENST00000588745.5:c.682_683delinsTG	ENSP00000464901.1:p.Cys228=
ENST00000591126.5:n.2971_2972delinsTG
ENST00000592186.5:c.955+5521_955+5522delinsTG	ENSP00000468611.1:n.955+5521_955+5522delinsTG
ENST00000611848.1:c.170_171delinsTG
NM_005359.5:c.970_971delinsTG , LRG_318t1:c.970_971delinsTG	NP_005350.1:p.Cys324=
NM_005359.6:c.970_971delinsTG MANE Select	NP_005350.1:p.Cys324=