Canonical Allele Identifier: CA2302981523

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067107_51067109delinsCAG , CM000680.2:g.51067107_51067109delinsCAG	GRCh38
NC_000018.9:g.48593477_48593479delinsCAG , CM000680.1:g.48593477_48593479delinsCAG	GRCh37
NC_000018.8:g.46847475_46847477delinsCAG	NCBI36
NG_013013.2:g.104068_104070delinsCAG , LRG_318:g.104068_104070delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1228_1230delinsCAG	ENSP00000465878.2:p.Gln410=
ENST00000589076.6:c.1228_1230delinsCAG	ENSP00000466934.2:p.Gln410=
ENST00000589941.2:c.1228_1230delinsCAG	ENSP00000465874.2:p.Gln410=
ENST00000590061.2:c.1228_1230delinsCAG	ENSP00000464772.2:p.Gln410=
ENST00000593223.2:c.1228_1230delinsCAG	ENSP00000466118.2:p.Gln410=
ENST00000611848.2:c.1228_1230delinsCAG	ENSP00000478613.2:p.Gln410=
ENST00000684953.1:n.2600_2602delinsCAG
ENST00000685090.1:n.1679_1681delinsCAG
ENST00000685232.1:n.1336_1338delinsCAG
ENST00000688574.1:n.1336_1338delinsCAG
ENST00000691124.1:n.2710_2712delinsCAG
ENST00000342988.8:c.1228_1230delinsCAG MANE Select	ENSP00000341551.3:p.Gln410=
ENST00000342988.7:c.1228_1230delinsCAG	ENSP00000341551.3:p.Gln410=
ENST00000398417.6:c.1228_1230delinsCAG	ENSP00000381452.1:p.Gln410=
ENST00000588745.5:c.940_942delinsCAG	ENSP00000464901.1:p.Gln314=
ENST00000590499.1:n.286_288delinsCAG
ENST00000591126.5:n.3229_3231delinsCAG
ENST00000592186.5:c.955+7191_955+7193delinsCAG	ENSP00000468611.1:n.955+7191_955+7193delinsCAG
ENST00000611848.1:c.428_430delinsCAG
NM_005359.5:c.1228_1230delinsCAG , LRG_318t1:c.1228_1230delinsCAG	NP_005350.1:p.Gln410=
NM_005359.6:c.1228_1230delinsCAG MANE Select	NP_005350.1:p.Gln410=