Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110644439dup , CM000672.2:g.110644439dup | GRCh38 |
| NC_000010.10:g.112404197dup , CM000672.1:g.112404197dup | GRCh37 |
| NC_000010.9:g.112394187dup | NCBI36 |
| NG_021177.1:g.5043dup , LRG_382:g.5043dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.-16dup MANE Select | ENSP00000358532.3:n.-16dup | |
| ENST00000369519.3:c.-16dup | ENSP00000358532.3:n.-16dup | |
| NM_001134363.2:c.-16dup | NP_001127835.2:n.-16dup | |
| XM_017016103.2:c.26+999dup | XP_016871592.1:n.26+999dup | |
| NM_001134363.3:c.-16dup MANE Select | NP_001127835.2:n.-16dup |