Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431447dup , CM000663.2:g.229431447dup | GRCh38 |
| NC_000001.10:g.229567194dup , CM000663.1:g.229567194dup | GRCh37 |
| NC_000001.9:g.227633817dup | NCBI36 |
| NG_006672.1:g.7656dup , LRG_429:g.7656dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.*58dup MANE Select | NP_001091.1:n.*58dup |
| ENST00000366684.7:c.*58dup MANE Select | ENSP00000355645.3:n.*58dup |
| NM_001100.3:c.*58dup , LRG_429t1:c.*58dup | NP_001091.1:n.*58dup |
| ENST00000366683.3:c.*58dup | ENSP00000355644.3:n.*58dup |
| ENST00000366683.4:c.*58dup | ENSP00000355644.4:n.*58dup |
| ENST00000684723.1:c.*58dup | ENSP00000508084.1:n.*58dup |