Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003285_75003293del , CM000676.2:g.75003285_75003293del | GRCh38 |
| NC_000014.8:g.75469988_75469996del , CM000676.1:g.75469988_75469996del | GRCh37 |
| NC_000014.7:g.74539741_74539749del | NCBI36 |
| NG_013333.1:g.5377_5385del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.174_182del MANE Select | ENSP00000266126.5:p.Met58_Leu60del | |
| ENST00000266126.9:c.174_182del | ENSP00000266126.5:p.Met58_Leu60del | |
| ENST00000553401.5:c.147_155del | ENSP00000451681.1:p.Met49_Leu51del | |
| ENST00000553539.1:n.314_322del | ||
| ENST00000555522.1:n.232_240del | ||
| ENST00000556028.5:c.174_182del | ENSP00000452311.1:p.Met58_Leu60del | |
| NM_014239.3:c.174_182del | NP_055054.1:p.Met58_Leu60del | |
| NM_014239.4:c.174_182del MANE Select | NP_055054.1:p.Met58_Leu60del |