Canonical Allele Identifier: CA2302977257

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058434_51058444delinsGCCGCCCCATC , CM000680.2:g.51058434_51058444delinsGCCGCCCCATC	GRCh38
NC_000018.9:g.48584804_48584814delinsGCCGCCCCATC , CM000680.1:g.48584804_48584814delinsGCCGCCCCATC	GRCh37
NC_000018.8:g.46838802_46838812delinsGCCGCCCCATC	NCBI36
NG_013013.2:g.95395_95405delinsGCCGCCCCATC , LRG_318:g.95395_95405delinsGCCGCCCCATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.882_892delinsGCCGCCCCATC	ENSP00000465878.2:p.Met294=
ENST00000589076.6:c.882_892delinsGCCGCCCCATC	ENSP00000466934.2:p.Met294=
ENST00000589941.2:c.882_892delinsGCCGCCCCATC	ENSP00000465874.2:p.Met294=
ENST00000590061.2:c.882_892delinsGCCGCCCCATC	ENSP00000464772.2:p.Met294=
ENST00000593223.2:c.882_892delinsGCCGCCCCATC	ENSP00000466118.2:p.Met294=
ENST00000611848.2:c.882_892delinsGCCGCCCCATC	ENSP00000478613.2:p.Met294=
ENST00000684953.1:n.2254_2264delinsGCCGCCCCATC
ENST00000685232.1:n.990_1000delinsGCCGCCCCATC
ENST00000688307.1:n.156-1432_156-1422delinsGCCGCCCCATC
ENST00000688574.1:n.990_1000delinsGCCGCCCCATC
ENST00000688903.1:n.1096_1106delinsGCCGCCCCATC
ENST00000690892.1:n.990_1000delinsGCCGCCCCATC
ENST00000342988.8:c.882_892delinsGCCGCCCCATC MANE Select	ENSP00000341551.3:p.Met294=
ENST00000342988.7:c.882_892delinsGCCGCCCCATC	ENSP00000341551.3:p.Met294=
ENST00000398417.6:c.882_892delinsGCCGCCCCATC	ENSP00000381452.1:p.Met294=
ENST00000588745.5:c.667+3441_667+3451delinsGCCGCCCCATC	ENSP00000464901.1:n.667+3441_667+3451delinsGCCGCCCCATC
ENST00000591126.5:n.2883_2893delinsGCCGCCCCATC
ENST00000592186.5:c.882_892delinsGCCGCCCCATC	ENSP00000468611.1:p.Met294=
ENST00000611848.1:c.82_92delinsGCCGCCCCATC
NM_005359.5:c.882_892delinsGCCGCCCCATC , LRG_318t1:c.882_892delinsGCCGCCCCATC	NP_005350.1:p.Met294=
NM_005359.6:c.882_892delinsGCCGCCCCATC MANE Select	NP_005350.1:p.Met294=