Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233574_55233575dup , CM000667.2:g.55233574_55233575dup | GRCh38 |
| NC_000005.9:g.54529402_54529403dup , CM000667.1:g.54529402_54529403dup | GRCh37 |
| NC_000005.8:g.54565159_54565160dup | NCBI36 |
| NG_034201.1:g.5143_5144dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.-52_-51dup MANE Select | ENSP00000282572.4:n.-52_-51dup | |
| ENST00000282572.4:c.-52_-51dup | ENSP00000282572.4:n.-52_-51dup | |
| ENST00000501463.2:c.-52_-51dup | ENSP00000422485.1:n.-52_-51dup | |
| NM_021147.4:c.-52_-51dup | NP_066970.3:n.-52_-51dup | |
| NR_125346.1:n.143_144dup | ||
| NR_125347.1:n.143_144dup | ||
| NM_021147.5:c.-52_-51dup MANE Select | NP_066970.3:n.-52_-51dup | |
| NR_125346.2:n.34_35dup | ||
| NR_125347.2:n.34_35dup |