Canonical Allele Identifier: CA2302980601

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065552_51065555delinsTTTG , CM000680.2:g.51065552_51065555delinsTTTG	GRCh38
NC_000018.9:g.48591922_48591925delinsTTTG , CM000680.1:g.48591922_48591925delinsTTTG	GRCh37
NC_000018.8:g.46845920_46845923delinsTTTG	NCBI36
NG_013013.2:g.102513_102516delinsTTTG , LRG_318:g.102513_102516delinsTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1085_1088delinsTTTG	ENSP00000465878.2:p.Phe362=
ENST00000589076.6:c.1085_1088delinsTTTG	ENSP00000466934.2:p.Phe362=
ENST00000589941.2:c.1085_1088delinsTTTG	ENSP00000465874.2:p.Phe362=
ENST00000590061.2:c.1085_1088delinsTTTG	ENSP00000464772.2:p.Phe362=
ENST00000593223.2:c.1085_1088delinsTTTG	ENSP00000466118.2:p.Phe362=
ENST00000611848.2:c.1085_1088delinsTTTG	ENSP00000478613.2:p.Phe362=
ENST00000684953.1:n.2457_2460delinsTTTG
ENST00000685090.1:n.1536_1539delinsTTTG
ENST00000685232.1:n.1193_1196delinsTTTG
ENST00000688307.1:n.336_339delinsTTTG
ENST00000688574.1:n.1193_1196delinsTTTG
ENST00000688903.1:n.1299_1302delinsTTTG
ENST00000691124.1:n.2567_2570delinsTTTG
ENST00000342988.8:c.1085_1088delinsTTTG MANE Select	ENSP00000341551.3:p.Phe362=
ENST00000342988.7:c.1085_1088delinsTTTG	ENSP00000341551.3:p.Phe362=
ENST00000398417.6:c.1085_1088delinsTTTG	ENSP00000381452.1:p.Phe362=
ENST00000588745.5:c.797_800delinsTTTG	ENSP00000464901.1:p.Phe266=
ENST00000591126.5:n.3086_3089delinsTTTG
ENST00000592186.5:c.955+5636_955+5639delinsTTTG	ENSP00000468611.1:n.955+5636_955+5639delinsTTTG
ENST00000611848.1:c.285_288delinsTTTG
NM_005359.5:c.1085_1088delinsTTTG , LRG_318t1:c.1085_1088delinsTTTG	NP_005350.1:p.Phe362=
NM_005359.6:c.1085_1088delinsTTTG MANE Select	NP_005350.1:p.Phe362=