Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121994801_122002722del , CM000674.2:g.121994801_122002722del | GRCh38 |
| NC_000012.11:g.122432707_122440628del , CM000674.1:g.122432707_122440628del | GRCh37 |
| NC_000012.10:g.120917090_120925011del | NCBI36 |
| NG_021364.1:g.81245_89166del | |
| NG_021364.2:g.81245_89166del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144668.5:c.3007-4915_3338-930del | |
| NM_144668.6:c.3007-4915_3338-930del | |
| ENST00000288912.8:c.3007-4915_3338-930del | |
| ENST00000288912.9:c.3007-4915_3338-930del |