Canonical Allele Identifier: CA2302987079

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078696_51078698delinsAAC , CM000680.2:g.51078696_51078698delinsAAC	GRCh38
NC_000018.9:g.48605066_48605068delinsAAC , CM000680.1:g.48605066_48605068delinsAAC	GRCh37
NC_000018.8:g.46859064_46859066delinsAAC	NCBI36
NG_013013.2:g.115657_115659delinsAAC , LRG_318:g.115657_115659delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*229_*231delinsAAC	ENSP00000465878.2:n.*229_*231delinsAAC
ENST00000589076.6:c.*229_*231delinsAAC	ENSP00000466934.2:n.*229_*231delinsAAC
ENST00000589941.2:c.*229_*231delinsAAC	ENSP00000465874.2:n.*229_*231delinsAAC
ENST00000590061.2:c.*229_*231delinsAAC	ENSP00000464772.2:n.*229_*231delinsAAC
ENST00000593223.2:c.*1885_*1887delinsAAC	ENSP00000466118.2:n.*1885_*1887delinsAAC
ENST00000611848.2:c.*540_*542delinsAAC	ENSP00000478613.2:n.*540_*542delinsAAC
ENST00000684953.1:n.3903_3905delinsAAC
ENST00000685090.1:n.3818_3820delinsAAC
ENST00000685232.1:n.2109_2111delinsAAC
ENST00000688574.1:n.1996_1998delinsAAC
ENST00000691124.1:n.4849_4851delinsAAC
ENST00000342988.8:c.*229_*231delinsAAC MANE Select	ENSP00000341551.3:n.*229_*231delinsAAC
ENST00000342988.7:c.*229_*231delinsAAC	ENSP00000341551.3:n.*229_*231delinsAAC
ENST00000398417.6:c.*229_*231delinsAAC	ENSP00000381452.1:n.*229_*231delinsAAC
ENST00000586253.1:n.610_612delinsAAC
ENST00000591126.5:n.3889_3891delinsAAC
ENST00000611848.1:c.1201_1203delinsAAC
NM_005359.5:c.*229_*231delinsAAC , LRG_318t1:c.*229_*231delinsAAC	NP_005350.1:n.*229_*231delinsAAC
NM_005359.6:c.*229_*231delinsAAC MANE Select	NP_005350.1:n.*229_*231delinsAAC