Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147824584del , CM000667.2:g.147824584del | GRCh38 |
| NC_000005.9:g.147204147del , CM000667.1:g.147204147del | GRCh37 |
| NC_000005.8:g.147184340del | NCBI36 |
| NG_008356.2:g.19648del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296695.10:c.*77del MANE Select | ENSP00000296695.5:n.*77del | |
| ENST00000296695.9:c.*77del | ENSP00000296695.5:n.*77del | |
| ENST00000505722.1:n.232del | ||
| NM_003122.4:c.*77del | NP_003113.2:n.*77del | |
| NM_001354966.1:c.*77del | NP_001341895.1:n.*77del | |
| NM_001354966.2:c.*77del | NP_001341895.1:n.*77del | |
| NM_001379610.1:c.*77del MANE Select | NP_001366539.1:n.*77del | |
| NM_003122.5:c.*77del | NP_003113.2:n.*77del |