Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133258038del , CM000671.2:g.133258038del | GRCh38 |
| NC_000009.11:g.136133428del , CM000671.1:g.136133428del | GRCh37 |
| NC_000009.10:g.135123249del | NCBI36 |
| NG_006669.1:g.19627del | |
| NG_006669.2:g.22178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.269+60del | ||
| ENST00000647353.1:n.54-6885del | ||
| ENST00000651471.1:n.329+5del | ||
| ENST00000679909.1:c.28+17125del | ENSP00000506089.1:n.28+17125del | |
| ENST00000453660.3:n.251+60del | ||
| ENST00000538324.2:c.239+60del | ENSP00000483018.1:n.239+60del | |
| ENST00000611156.4:c.239+60del | ENSP00000483265.1:n.239+60del | |
| NM_020469.2:c.239+60del | NP_065202.2:n.239+60del | |
| NM_020469.3:c.239+60del | NP_065202.2:n.239+60del |