| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965395_37965415del , CM000670.2:g.37965395_37965415del | GRCh38 |
| NC_000008.10:g.37822913_37822933del , CM000670.1:g.37822913_37822933del | GRCh37 |
| NC_000008.9:g.37942070_37942090del | NCBI36 |
| NG_011936.1:g.6255_6275del |
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.1058_1078del MANE Select | NP_000016.1:p.Arg353_Leu359del |
| ENST00000345060.5:c.1058_1078del MANE Select | ENSP00000343782.3:p.Arg353_Leu359del |
| NM_000025.2:c.1058_1078del | NP_000016.1:p.Arg353_Leu359del |
| ENST00000345060.4:c.1058_1078del | ENSP00000343782.3:p.Arg353_Leu359del |
| ENST00000520341.1:n.333_353del | |
| ENST00000520341.2:n.1186_1206del | |
| ENST00000614635.1:c.1058_1078del | ENSP00000480325.1:p.Arg353_Leu359del |
| ENST00000647937.1:c.542_562del | ENSP00000497740.1:p.Arg181_Leu187del |