Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566964_137566966del , CM000685.2:g.137566964_137566966del | GRCh38 |
| NC_000023.10:g.136649123_136649125del , CM000685.1:g.136649123_136649125del | GRCh37 |
| NC_000023.9:g.136476789_136476791del | NCBI36 |
| NG_008115.1:g.5778_5780del | |
| NG_008115.2:g.5838_5840del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.273_275del MANE Select | ENSP00000287538.5:p.His92del | |
| ENST00000287538.9:c.273_275del | ENSP00000287538.5:p.His92del | |
| ENST00000370606.3:c.273_275del | ENSP00000359638.3:p.His92del | |
| NM_003413.3:c.273_275del | NP_003404.1:p.His92del | |
| NM_001330661.1:c.273_275del | NP_001317590.1:p.His92del | |
| NM_003413.4:c.273_275del MANE Select | NP_003404.1:p.His92del |