Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257337del , CM000671.2:g.133257337del | GRCh38 |
| NC_000009.11:g.136132724del , CM000671.1:g.136132724del | GRCh37 |
| NC_000009.10:g.135122545del | NCBI36 |
| NG_006669.1:g.20332del | |
| NG_006669.2:g.22880del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.403+73del | ||
| ENST00000647353.1:n.54-6184del | ||
| ENST00000651471.1:n.329+706del | ||
| ENST00000679909.1:c.28+17826del | ENSP00000506089.1:n.28+17826del | |
| ENST00000453660.3:n.385+73del | ||
| ENST00000538324.2:c.371+73del | ENSP00000483018.1:n.371+73del | |
| ENST00000611156.4:c.371+73del | ENSP00000483265.1:n.371+73del | |
| NM_020469.2:c.374+73del | NP_065202.2:n.374+73del | |
| NM_020469.3:c.374+73del | NP_065202.2:n.374+73del |