Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111222867dup , CM000668.2:g.111222867dup | GRCh38 |
| NC_000006.11:g.111544070dup , CM000668.1:g.111544070dup | GRCh37 |
| NC_000006.10:g.111650763dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368851.10:c.*632dup MANE Select | ENSP00000357844.4:n.*632dup | |
| ENST00000368850.4:c.*632dup | ENSP00000357843.1:n.*632dup | |
| ENST00000368851.9:c.*632dup | ENSP00000357844.4:n.*632dup | |
| NM_018593.4:c.*632dup | NP_061063.2:n.*632dup | |
| XM_005266818.2:c.*586dup | XP_005266875.1:n.*586dup | |
| XM_017010237.1:c.*632dup | XP_016865726.1:n.*632dup | |
| XR_001743158.1:n.2462dup | ||
| NM_018593.5:c.*632dup MANE Select | NP_061063.2:n.*632dup |