Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060548_219060549delinsGC , CM000664.2:g.219060548_219060549delinsGC | GRCh38 |
| NC_000002.11:g.219925270_219925271delinsGC , CM000664.1:g.219925270_219925271delinsGC | GRCh37 |
| NC_000002.10:g.219633514_219633515delinsGC | NCBI36 |
| NG_016741.1:g.4968_4969delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-82_-81delinsGC MANE Select | ENSP00000295731.5:n.-82_-81delinsGC | |
| NM_002181.4:c.-82_-81delinsGC MANE Select | NP_002172.2:n.-82_-81delinsGC |