Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52397459_52397461dup , CM000675.2:g.52397459_52397461dup | GRCh38 |
| NC_000013.10:g.52971594_52971596dup , CM000675.1:g.52971594_52971596dup | GRCh37 |
| NC_000013.9:g.51869595_51869597dup | NCBI36 |
| NG_047168.1:g.14034_14036dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.792_794dup MANE Select | ENSP00000258613.4:p.Cys265Ter | |
| ENST00000648254.1:c.792_794dup | ENSP00000497520.1:p.Cys265Ter | |
| ENST00000258613.4:c.792_794dup | ENSP00000258613.4:p.Cys265Ter | |
| ENST00000349258.8:c.792_794dup | ENSP00000340650.4:p.Cys265Ter | |
| NM_018676.3:c.792_794dup | NP_061146.1:p.Cys265Ter | |
| NM_199263.2:c.792_794dup | NP_954872.1:p.Cys265Ter | |
| NM_018676.4:c.792_794dup MANE Select | NP_061146.1:p.Cys265Ter | |
| NM_199263.3:c.792_794dup | NP_954872.1:p.Cys265Ter |