Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832938dup , CM000673.2:g.116832938dup | GRCh38 |
| NC_000011.9:g.116703654dup , CM000673.1:g.116703654dup | GRCh37 |
| NC_000011.8:g.116208864dup | NCBI36 |
| NG_008949.1:g.8031dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.*54dup MANE Select | ENSP00000227667.2:n.*54dup | |
| ENST00000227667.7:c.*54dup | ENSP00000227667.2:n.*54dup | |
| ENST00000375345.3:c.*54dup | ENSP00000364494.1:n.*54dup | |
| ENST00000630701.1:c.408dup | ENSP00000486182.1:n.408dup | |
| NM_000040.1:c.*54dup | NP_000031.1:n.*54dup | |
| NM_000040.2:c.*54dup | NP_000031.1:n.*54dup | |
| NM_000040.3:c.*54dup MANE Select | NP_000031.1:n.*54dup |