Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044067_114044068dup , CM000672.2:g.114044067_114044068dup | GRCh38 |
| NC_000010.10:g.115803826_115803827dup , CM000672.1:g.115803826_115803827dup | GRCh37 |
| NC_000010.9:g.115793816_115793817dup | NCBI36 |
| NG_012187.1:g.5021_5022dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-66_-65dup MANE Select | ENSP00000358301.2:n.-66_-65dup | |
| ENST00000369295.3:c.-66_-65dup | ENSP00000358301.2:n.-66_-65dup | |
| NM_000684.2:c.-66_-65dup | NP_000675.1:n.-66_-65dup | |
| NM_000684.3:c.-66_-65dup MANE Select | NP_000675.1:n.-66_-65dup |