Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008152_88008185del , CM000666.2:g.88008152_88008185del | GRCh38 |
| NC_000004.11:g.88929304_88929337del , CM000666.1:g.88929304_88929337del | GRCh37 |
| NC_000004.10:g.89148328_89148361del | NCBI36 |
| NG_008604.1:g.5485_5518del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.419_452del MANE Select | ENSP00000237596.2:p.Gly140AlafsTer? | |
| ENST00000237596.6:c.419_452del | ENSP00000237596.2:p.Gly140AlafsTer? | |
| NM_000297.3:c.419_452del | NP_000288.1:p.Gly140AlafsTer? | |
| XM_011532028.1:c.419_452del | XP_011530330.1:p.Gly140AlafsTer? | |
| XR_244632.2:n.514_547del | ||
| NR_156488.1:n.506_539del | ||
| XM_011532028.2:c.419_452del | XP_011530330.1:p.Gly140AlafsTer? | |
| NM_000297.4:c.419_452del MANE Select | NP_000288.1:p.Gly140AlafsTer? | |
| NR_156488.2:n.518_551del |