Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114714011_114714012insGTGGTGGGT , CM000663.2:g.114714011_114714012insGTGGTGGGT | GRCh38 |
| NC_000001.10:g.115256632_115256633insGTGGTGGGT , CM000663.1:g.115256632_115256633insGTGGTGGGT | GRCh37 |
| NC_000001.9:g.115058155_115058156insGTGGTGGGT | NCBI36 |
| NG_007572.1:g.7883_7884insACCCACCAC , LRG_92:g.7883_7884insACCCACCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.112-34_112-33insACCCACCAC MANE Select | ENSP00000358548.4:n.112-34_112-33insACCCACCAC | |
| ENST00000369535.4:c.112-34_112-33insACCCACCAC | ENSP00000358548.4:n.112-34_112-33insACCCACCAC | |
| NM_002524.4:c.112-34_112-33insACCCACCAC | NP_002515.1:n.112-34_112-33insACCCACCAC | |
| NM_002524.5:c.112-34_112-33insACCCACCAC MANE Select | NP_002515.1:n.112-34_112-33insACCCACCAC |