Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13492585dup , CM000673.2:g.13492585dup | GRCh38 |
| NC_000011.9:g.13514132dup , CM000673.1:g.13514132dup | GRCh37 |
| NC_000011.8:g.13470708dup | NCBI36 |
| NG_008962.1:g.8436dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282091.6:c.168dup MANE Select | ENSP00000282091.1:p.Lys57Ter | |
| ENST00000282091.5:c.168dup | ENSP00000282091.1:p.Lys57Ter | |
| ENST00000529816.1:c.168dup | ENSP00000433208.1:p.Lys57Ter | |
| NM_000315.2:c.168dup | NP_000306.1:p.Lys57Ter | |
| NM_000315.3:c.168dup | NP_000306.1:p.Lys57Ter | |
| NM_001316352.1:c.264dup | NP_001303281.1:p.Lys89Ter | |
| NM_000315.4:c.168dup MANE Select | NP_000306.1:p.Lys57Ter | |
| NM_001316352.2:c.264dup | NP_001303281.1:p.Lys89Ter |