Canonical Allele Identifier: CA2641836333
Gene: SMAD4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51047297_51047298insGGCTGGTCGGAAAGGATTTCCTCATGTGATC , CM000680.2:g.51047297_51047298insGGCTGGTCGGAAAGGATTTCCTCATGTGATC GRCh38
NC_000018.9:g.48573667_48573668insGGCTGGTCGGAAAGGATTTCCTCATGTGATC , CM000680.1:g.48573667_48573668insGGCTGGTCGGAAAGGATTTCCTCATGTGATC GRCh37
NC_000018.8:g.46827665_46827666insGGCTGGTCGGAAAGGATTTCCTCATGTGATC NCBI36
NG_013013.2:g.84258_84259insGGCTGGTCGGAAAGGATTTCCTCATGTGATC , LRG_318:g.84258_84259insGGCTGGTCGGAAAGGATTTCCTCATGTGATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000465878.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000589076.6:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000466934.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000589941.2:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000465874.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000590061.2:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000464772.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000593223.2:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000466118.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000611848.2:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000478613.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000342988.8:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC MANE Select ENSP00000341551.3:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000342988.7:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000341551.3:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000398417.6:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000381452.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000588745.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000464901.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000588860.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000465878.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000589076.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000466934.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000589706.1:n.117+2_117+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC
ENST00000589941.1:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000465874.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000590061.1:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000464772.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000590722.2:c.*272+2_*272+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000465737.1:n.*272+2_*272+3insGGCTGGTCGGAAAGGATTTCCTCAT...
ENST00000591914.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000466941.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000592186.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC ENSP00000468611.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGT...
ENST00000592911.5:n.28-1389_28-1388insGGCTGGTCGGAAAGGATTTCCTCATGTGATC
NM_005359.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC , LRG_318t1:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC NP_005350.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC
NM_005359.6:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC MANE Select NP_005350.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATGTGATC