Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102839175_102846971del , CM000674.2:g.102839175_102846971del | GRCh38 |
| NC_000012.11:g.103232953_103240749del , CM000674.1:g.103232953_103240749del | GRCh37 |
| NC_000012.10:g.101757083_101764879del | NCBI36 |
| NG_008690.2:g.116440_124236del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.2:c.913-20_1359del | |
| NM_000277.3:c.913-20_1359del | |
| NM_001354304.1:c.913-20_1359del | |
| NM_001354304.2:c.913-20_1359del | |
| ENST00000307000.7:c.898-20_1344del | |
| ENST00000551114.2:n.575-20_1021del | |
| ENST00000553106.5:c.913-20_1359del | |
| ENST00000553106.6:c.913-20_1359del | |
| ENST00000635528.1:n.408_874del | |
| XM_011538422.1:c.913-2540_1302del |