Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008164_88008165del , CM000666.2:g.88008164_88008165del | GRCh38 |
| NC_000004.11:g.88929316_88929317del , CM000666.1:g.88929316_88929317del | GRCh37 |
| NC_000004.10:g.89148340_89148341del | NCBI36 |
| NG_008604.1:g.5497_5498del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.431_432del MANE Select | ENSP00000237596.2:p.Tyr144SerfsTer? | |
| ENST00000237596.6:c.431_432del | ENSP00000237596.2:p.Tyr144SerfsTer? | |
| NM_000297.3:c.431_432del | NP_000288.1:p.Tyr144SerfsTer? | |
| XM_011532028.1:c.431_432del | XP_011530330.1:p.Tyr144SerfsTer? | |
| XR_244632.2:n.526_527del | ||
| NR_156488.1:n.518_519del | ||
| XM_011532028.2:c.431_432del | XP_011530330.1:p.Tyr144SerfsTer? | |
| NM_000297.4:c.431_432del MANE Select | NP_000288.1:p.Tyr144SerfsTer? | |
| NR_156488.2:n.530_531del |