Canonical Allele Identifier: CA990249137

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910682615
• gnomAD v3: 18-51084012-G-GCACACACACACACGCGCA
• gnomAD v4: 18-51084012-G-GCACACACACACACGCGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51084025_51084026insGCGCACACACACACACAC , CM000680.2:g.51084025_51084026insGCGCACACACACACACAC	GRCh38
NC_000018.9:g.48610395_48610396insGCGCACACACACACACAC , CM000680.1:g.48610395_48610396insGCGCACACACACACACAC	GRCh37
NC_000018.8:g.46864393_46864394insGCGCACACACACACACAC	NCBI36
NG_013013.2:g.120986_120987insGCGCACACACACACACAC , LRG_318:g.120986_120987insGCGCACACACACACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*5558_*5559insGCGCACACACACACACAC	ENSP00000465878.2:n.*5558_*5559insGCGCACACACACACACAC
ENST00000589076.6:c.*5558_*5559insGCGCACACACACACACAC	ENSP00000466934.2:n.*5558_*5559insGCGCACACACACACACAC
ENST00000589941.2:c.*5558_*5559insGCGCACACACACACACAC	ENSP00000465874.2:n.*5558_*5559insGCGCACACACACACACAC
ENST00000590061.2:c.*5558_*5559insGCGCACACACACACACAC	ENSP00000464772.2:n.*5558_*5559insGCGCACACACACACACAC
ENST00000688574.1:n.7325_7326insGCGCACACACACACACAC
ENST00000342988.8:c.*5558_*5559insGCGCACACACACACACAC MANE Select	ENSP00000341551.3:n.*5558_*5559insGCGCACACACACACACAC
ENST00000342988.7:c.*5558_*5559insGCGCACACACACACACAC	ENSP00000341551.3:n.*5558_*5559insGCGCACACACACACACAC
ENST00000398417.6:c.*5558_*5559insGCGCACACACACACACAC	ENSP00000381452.1:n.*5558_*5559insGCGCACACACACACACAC
NM_005359.5:c.*5558_*5559insGCGCACACACACACACAC , LRG_318t1:c.*5558_*5559insGCGCACACACACACACAC	NP_005350.1:n.*5558_*5559insGCGCACACACACACACAC
NM_005359.6:c.*5558_*5559insGCGCACACACACACACAC MANE Select	NP_005350.1:n.*5558_*5559insGCGCACACACACACACAC