Canonical Allele Identifier: CA2302980730

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065603_51065604delinsCA , CM000680.2:g.51065603_51065604delinsCA	GRCh38
NC_000018.9:g.48591973_48591974delinsCA , CM000680.1:g.48591973_48591974delinsCA	GRCh37
NC_000018.8:g.46845971_46845972delinsCA	NCBI36
NG_013013.2:g.102564_102565delinsCA , LRG_318:g.102564_102565delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1136_1137delinsCA	ENSP00000465878.2:p.Ala379=
ENST00000589076.6:c.1136_1137delinsCA	ENSP00000466934.2:p.Ala379=
ENST00000589941.2:c.1136_1137delinsCA	ENSP00000465874.2:p.Ala379=
ENST00000590061.2:c.1136_1137delinsCA	ENSP00000464772.2:p.Ala379=
ENST00000593223.2:c.1136_1137delinsCA	ENSP00000466118.2:p.Ala379=
ENST00000611848.2:c.1136_1137delinsCA	ENSP00000478613.2:p.Ala379=
ENST00000684953.1:n.2508_2509delinsCA
ENST00000685090.1:n.1587_1588delinsCA
ENST00000685232.1:n.1244_1245delinsCA
ENST00000688307.1:n.387_388delinsCA
ENST00000688574.1:n.1244_1245delinsCA
ENST00000688903.1:n.1350_1351delinsCA
ENST00000691124.1:n.2618_2619delinsCA
ENST00000342988.8:c.1136_1137delinsCA MANE Select	ENSP00000341551.3:p.Ala379=
ENST00000342988.7:c.1136_1137delinsCA	ENSP00000341551.3:p.Ala379=
ENST00000398417.6:c.1136_1137delinsCA	ENSP00000381452.1:p.Ala379=
ENST00000588745.5:c.848_849delinsCA	ENSP00000464901.1:p.Ala283=
ENST00000591126.5:n.3137_3138delinsCA
ENST00000592186.5:c.955+5687_955+5688delinsCA	ENSP00000468611.1:n.955+5687_955+5688delinsCA
ENST00000611848.1:c.336_337delinsCA
NM_005359.5:c.1136_1137delinsCA , LRG_318t1:c.1136_1137delinsCA	NP_005350.1:p.Ala379=
NM_005359.6:c.1136_1137delinsCA MANE Select	NP_005350.1:p.Ala379=