Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753532_64753564del , CM000673.2:g.64753532_64753564del | GRCh38 |
| NC_000011.9:g.64521004_64521036del , CM000673.1:g.64521004_64521036del | GRCh37 |
| NC_000011.8:g.64277580_64277612del | NCBI36 |
| NG_013018.1:g.12156_12188del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1362_1394del MANE Select | ENSP00000164139.3:p.Asn454_Leu464del | |
| ENST00000164139.3:c.1362_1394del | ENSP00000164139.3:p.Asn454_Leu464del | |
| ENST00000377432.7:c.1098_1130del | ENSP00000366650.3:p.Asn366_Leu376del | |
| NM_001164716.1:c.1098_1130del | NP_001158188.1:p.Asn366_Leu376del | |
| NM_005609.2:c.1362_1394del | NP_005600.1:p.Asn454_Leu464del | |
| NM_005609.3:c.1362_1394del | NP_005600.1:p.Asn454_Leu464del | |
| NM_005609.4:c.1362_1394del MANE Select | NP_005600.1:p.Asn454_Leu464del |