Canonical Allele Identifier: CA2302977075
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51058123_51058146delinsAGGTCAGCCTGCCAGTATACTGGG , CM000680.2:g.51058123_51058146delinsAGGTCAGCCTGCCAGTATACTGGG GRCh38
NC_000018.9:g.48584493_48584516delinsAGGTCAGCCTGCCAGTATACTGGG , CM000680.1:g.48584493_48584516delinsAGGTCAGCCTGCCAGTATACTGGG GRCh37
NC_000018.8:g.46838491_46838514delinsAGGTCAGCCTGCCAGTATACTGGG NCBI36
NG_013013.2:g.95084_95107delinsAGGTCAGCCTGCCAGTATACTGGG , LRG_318:g.95084_95107delinsAGGTCAGCCTGCCAGTATACTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000589076.6:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000589941.2:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000590061.2:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000593223.2:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000611848.2:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000684953.1:n.2040-2_2061delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000685232.1:n.774_797delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000688307.1:n.156-1743_156-1720delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000688574.1:n.774_797delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000688903.1:n.880_903delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000690892.1:n.774_797delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000342988.8:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000342988.7:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000398417.6:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000588745.5:c.667+3130_667+3153delinsAGGTCAGCCTGCCAGTATACTGGG ENSP00000464901.1:n.667+3130_667+3153delinsAGGTCAGCCTGCCAGTAT...
ENST00000591126.5:n.2669-2_2690delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000592186.5:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
ENST00000592911.5:n.446-2_467delinsAGGTCAGCCTGCCAGTATACTGGG
NM_005359.5:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG , LRG_318t1:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG
NM_005359.6:c.668-2_689delinsAGGTCAGCCTGCCAGTATACTGGG