Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758706_64758707del , CM000673.2:g.64758706_64758707del | GRCh38 |
| NC_000011.9:g.64526178_64526179del , CM000673.1:g.64526178_64526179del | GRCh37 |
| NC_000011.8:g.64282754_64282755del | NCBI36 |
| NG_013018.1:g.7009_7010del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.244-3_244-2del MANE Select | ENSP00000164139.3:n.244-3_244-2del | |
| ENST00000164139.3:c.244-3_244-2del | ENSP00000164139.3:n.244-3_244-2del | |
| ENST00000377432.7:c.244-441_244-440del | ENSP00000366650.3:n.244-441_244-440del | |
| NM_001164716.1:c.244-441_244-440del | NP_001158188.1:n.244-441_244-440del | |
| NM_005609.2:c.244-3_244-2del | NP_005600.1:n.244-3_244-2del | |
| NM_005609.3:c.244-3_244-2del | NP_005600.1:n.244-3_244-2del | |
| NM_005609.4:c.244-3_244-2del MANE Select | NP_005600.1:n.244-3_244-2del |