Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110644520dup , CM000672.2:g.110644520dup | GRCh38 |
| NC_000010.10:g.112404278dup , CM000672.1:g.112404278dup | GRCh37 |
| NC_000010.9:g.112394268dup | NCBI36 |
| NG_021177.1:g.5124dup , LRG_382:g.5124dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.66dup MANE Select | ENSP00000358532.3:p.Ala23CysfsTer? | |
| ENST00000369519.3:c.66dup | ENSP00000358532.3:p.Ala23CysfsTer? | |
| NM_001134363.2:c.66dup | NP_001127835.2:p.Ala23CysfsTer? | |
| XM_017016103.2:c.26+1080dup | XP_016871592.1:n.26+1080dup | |
| NM_001134363.3:c.66dup MANE Select | NP_001127835.2:p.Ala23CysfsTer? |