Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73332140_73332141del , CM000677.2:g.73332140_73332141del | GRCh38 |
| NC_000015.9:g.73624481_73624482del , CM000677.1:g.73624481_73624482del | GRCh37 |
| NC_000015.8:g.71411534_71411535del | NCBI36 |
| NG_009063.1:g.42125_42126del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1362_1363del MANE Select | ENSP00000261917.3:p.Asn454LysfsTer? | |
| ENST00000261917.3:c.1362_1363del | ENSP00000261917.3:p.Asn454LysfsTer? | |
| NM_005477.2:c.1362_1363del | NP_005468.1:p.Asn454LysfsTer? | |
| XM_011521148.1:c.144_145del | XP_011519450.1:p.Asn48LysfsTer? | |
| XM_011521148.2:c.144_145del | XP_011519450.1:p.Asn48LysfsTer? | |
| NM_005477.3:c.1362_1363del MANE Select | NP_005468.1:p.Asn454LysfsTer? |