Canonical Allele Identifier: CA2302977081

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058132_51058133delinsTG , CM000680.2:g.51058132_51058133delinsTG	GRCh38
NC_000018.9:g.48584502_48584503delinsTG , CM000680.1:g.48584502_48584503delinsTG	GRCh37
NC_000018.8:g.46838500_46838501delinsTG	NCBI36
NG_013013.2:g.95093_95094delinsTG , LRG_318:g.95093_95094delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.675_676delinsTG	ENSP00000465878.2:p.Pro225=
ENST00000589076.6:c.675_676delinsTG	ENSP00000466934.2:p.Pro225=
ENST00000589941.2:c.675_676delinsTG	ENSP00000465874.2:p.Pro225=
ENST00000590061.2:c.675_676delinsTG	ENSP00000464772.2:p.Pro225=
ENST00000593223.2:c.675_676delinsTG	ENSP00000466118.2:p.Pro225=
ENST00000611848.2:c.675_676delinsTG	ENSP00000478613.2:p.Pro225=
ENST00000684953.1:n.2047_2048delinsTG
ENST00000685232.1:n.783_784delinsTG
ENST00000688307.1:n.156-1734_156-1733delinsTG
ENST00000688574.1:n.783_784delinsTG
ENST00000688903.1:n.889_890delinsTG
ENST00000690892.1:n.783_784delinsTG
ENST00000342988.8:c.675_676delinsTG MANE Select	ENSP00000341551.3:p.Pro225=
ENST00000342988.7:c.675_676delinsTG	ENSP00000341551.3:p.Pro225=
ENST00000398417.6:c.675_676delinsTG	ENSP00000381452.1:p.Pro225=
ENST00000588745.5:c.667+3139_667+3140delinsTG	ENSP00000464901.1:n.667+3139_667+3140delinsTG
ENST00000590722.2:c.*851_*852delinsTG	ENSP00000465737.1:n.*851_*852delinsTG
ENST00000591126.5:n.2676_2677delinsTG
ENST00000592186.5:c.675_676delinsTG	ENSP00000468611.1:p.Pro225=
ENST00000592911.5:n.453_454delinsTG
NM_005359.5:c.675_676delinsTG , LRG_318t1:c.675_676delinsTG	NP_005350.1:p.Pro225=
NM_005359.6:c.675_676delinsTG MANE Select	NP_005350.1:p.Pro225=