Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45695884_45695892del , CM000667.2:g.45695884_45695892del | GRCh38 |
| NC_000005.9:g.45695986_45695994del , CM000667.1:g.45695986_45695994del | GRCh37 |
| NC_000005.8:g.45731743_45731751del | NCBI36 |
| NG_042183.1:g.5240_5248del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021072.4:c.215_223del MANE Select | NP_066550.2:p.Gly72_Gly74del |
| ENST00000303230.6:c.215_223del MANE Select | ENSP00000307342.4:p.Gly72_Gly74del |
| NM_021072.3:c.215_223del | NP_066550.2:p.Gly72_Gly74del |
| ENST00000303230.5:c.215_223del | ENSP00000307342.4:p.Gly72_Gly74del |
| ENST00000634658.1:c.215_223del | ENSP00000489134.1:p.Gly72_Gly74del |
| ENST00000673735.1:c.215_223del | ENSP00000501107.1:p.Gly72_Gly74del |