Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007904_88007908del , CM000666.2:g.88007904_88007908del | GRCh38 |
| NC_000004.11:g.88929056_88929060del , CM000666.1:g.88929056_88929060del | GRCh37 |
| NC_000004.10:g.89148080_89148084del | NCBI36 |
| NG_008604.1:g.5237_5241del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.171_175del MANE Select | ENSP00000237596.2:p.Gln57HisfsTer? | |
| ENST00000237596.6:c.171_175del | ENSP00000237596.2:p.Gln57HisfsTer? | |
| NM_000297.3:c.171_175del | NP_000288.1:p.Gln57HisfsTer? | |
| XM_011532028.1:c.171_175del | XP_011530330.1:p.Gln57HisfsTer? | |
| XR_244632.2:n.266_270del | ||
| NR_156488.1:n.258_262del | ||
| XM_011532028.2:c.171_175del | XP_011530330.1:p.Gln57HisfsTer? | |
| NM_000297.4:c.171_175del MANE Select | NP_000288.1:p.Gln57HisfsTer? | |
| NR_156488.2:n.270_274del |