Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415237_23415239del , CM000676.2:g.23415237_23415239del | GRCh38 |
| NC_000014.8:g.23884446_23884448del , CM000676.1:g.23884446_23884448del | GRCh37 |
| NC_000014.7:g.22954286_22954288del | NCBI36 |
| NG_007884.1:g.25425_25427del , LRG_384:g.25425_25427del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5317_5319del MANE Select | ENSP00000347507.3:p.Gln1773del | |
| ENST00000355349.3:c.5317_5319del | ENSP00000347507.3:p.Gln1773del | |
| NM_000257.3:c.5317_5319del | NP_000248.2:p.Gln1773del | |
| XM_017021340.1:c.5317_5319del | XP_016876829.1:p.Gln1773del | |
| NM_000257.4:c.5317_5319del MANE Select | NP_000248.2:p.Gln1773del |