Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651775_119651782del , CM000672.2:g.119651775_119651782del | GRCh38 |
| NC_000010.10:g.121411287_121411294del , CM000672.1:g.121411287_121411294del | GRCh37 |
| NC_000010.9:g.121401277_121401284del | NCBI36 |
| NG_016125.1:g.5406_5413del , LRG_742:g.5406_5413del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.100_107del MANE Select | ENSP00000358081.4:p.Thr34AlafsTer21 | |
| ENST00000369085.7:c.100_107del | ENSP00000358081.3:p.Thr34AlafsTer21 | |
| NM_004281.3:c.100_107del , LRG_742t1:c.100_107del | NP_004272.2:p.Thr34AlafsTer21 | |
| XM_005270287.1:c.100_107del | XP_005270344.1:p.Thr34AlafsTer21 | |
| XM_005270287.2:c.100_107del | XP_005270344.1:p.Thr34AlafsTer21 | |
| NM_004281.4:c.100_107del MANE Select | NP_004272.2:p.Thr34AlafsTer21 |