Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990809_45990822del , CM000683.2:g.45990809_45990822del | GRCh38 |
| NC_000021.8:g.47410723_47410736del , CM000683.1:g.47410723_47410736del | GRCh37 |
| NC_000021.7:g.46235151_46235164del | NCBI36 |
| NG_008674.1:g.14061_14074del , LRG_475:g.14061_14074del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.1039_1052del MANE Select | NP_001839.2:p.Gly347Ter |
| ENST00000361866.8:c.1039_1052del MANE Select | ENSP00000355180.3:p.Gly347Ter |
| NM_001848.2:c.1039_1052del , LRG_475t1:c.1039_1052del | NP_001839.2:p.Gly347Ter |
| ENST00000361866.7:c.1039_1052del | ENSP00000355180.3:p.Gly347Ter |
| ENST00000612273.1:c.1039_1052del | ENSP00000483630.1:p.Gly347Ter |