Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759700_64759701delinsGC , CM000673.2:g.64759700_64759701delinsGC | GRCh38 |
| NC_000011.9:g.64527172_64527173delinsGC , CM000673.1:g.64527172_64527173delinsGC | GRCh37 |
| NC_000011.8:g.64283748_64283749delinsGC | NCBI36 |
| NG_013018.1:g.6015_6016delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.198_199delinsGC MANE Select | ENSP00000164139.3:p.Gly66= | |
| ENST00000164139.3:c.198_199delinsGC | ENSP00000164139.3:p.Gly66= | |
| ENST00000377432.7:c.198_199delinsGC | ENSP00000366650.3:p.Gly66= | |
| NM_001164716.1:c.198_199delinsGC | NP_001158188.1:p.Gly66= | |
| NM_005609.2:c.198_199delinsGC | NP_005600.1:p.Gly66= | |
| NM_005609.3:c.198_199delinsGC | NP_005600.1:p.Gly66= | |
| NM_005609.4:c.198_199delinsGC MANE Select | NP_005600.1:p.Gly66= |