Canonical Allele Identifier: CA2302989615
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51083996_51084026delinsGTGCGCACGCGCGCGCGCACACACACACACA , CM000680.2:g.51083996_51084026delinsGTGCGCACGCGCGCGCGCACACACACACACA GRCh38
NC_000018.9:g.48610366_48610396delinsGTGCGCACGCGCGCGCGCACACACACACACA , CM000680.1:g.48610366_48610396delinsGTGCGCACGCGCGCGCGCACACACACACACA GRCh37
NC_000018.8:g.46864364_46864394delinsGTGCGCACGCGCGCGCGCACACACACACACA NCBI36
NG_013013.2:g.120957_120987delinsGTGCGCACGCGCGCGCGCACACACACACACA , LRG_318:g.120957_120987delinsGTGCGCACGCGCGCGCGCACACACACACACA

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA ENSP00000465878.2:n.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACAC...
ENST00000589076.6:c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA ENSP00000466934.2:n.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACAC...
ENST00000589941.2:c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA ENSP00000465874.2:n.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACAC...
ENST00000590061.2:c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA ENSP00000464772.2:n.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACAC...
ENST00000688574.1:n.7296_7326delinsGTGCGCACGCGCGCGCGCACACACACACACA
ENST00000342988.8:c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA MANE Select ENSP00000341551.3:n.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACAC...
ENST00000342988.7:c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA ENSP00000341551.3:n.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACAC...
ENST00000398417.6:c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA ENSP00000381452.1:n.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACAC...
NM_005359.5:c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA , LRG_318t1:c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA NP_005350.1:n.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACAC...
NM_005359.6:c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA MANE Select NP_005350.1:n.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACAC...