Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50916077_50916078del , CM000685.2:g.50916077_50916078del | GRCh38 |
| NC_000023.10:g.50659077_50659078del , CM000685.1:g.50659077_50659078del | GRCh37 |
| NC_000023.9:g.50675817_50675818del | NCBI36 |
| NG_012894.1:g.10294_10295del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.649_650del MANE Select | ENSP00000252677.3:p.Gly217SerfsTer2 | |
| ENST00000252677.3:c.649_650del | ENSP00000252677.3:p.Gly217SerfsTer2 | |
| NM_005448.2:c.649_650del MANE Select | NP_005439.2:p.Gly217SerfsTer2 |