Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008068_88008072dup , CM000666.2:g.88008068_88008072dup | GRCh38 |
| NC_000004.11:g.88929220_88929224dup , CM000666.1:g.88929220_88929224dup | GRCh37 |
| NC_000004.10:g.89148244_89148248dup | NCBI36 |
| NG_008604.1:g.5401_5405dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.335_339dup MANE Select | ENSP00000237596.2:p.Met114TrpfsTer5 | |
| ENST00000237596.6:c.335_339dup | ENSP00000237596.2:p.Met114TrpfsTer5 | |
| NM_000297.3:c.335_339dup | NP_000288.1:p.Met114TrpfsTer5 | |
| XM_011532028.1:c.335_339dup | XP_011530330.1:p.Met114TrpfsTer5 | |
| XR_244632.2:n.430_434dup | ||
| NR_156488.1:n.422_426dup | ||
| XM_011532028.2:c.335_339dup | XP_011530330.1:p.Met114TrpfsTer5 | |
| NM_000297.4:c.335_339dup MANE Select | NP_000288.1:p.Met114TrpfsTer5 | |
| NR_156488.2:n.434_438dup |