Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739672_86739675dup , CM000670.2:g.86739672_86739675dup | GRCh38 |
| NC_000008.10:g.87751900_87751903dup , CM000670.1:g.87751900_87751903dup | GRCh37 |
| NC_000008.9:g.87821016_87821019dup | NCBI36 |
| NG_016980.1:g.9002_9005dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.192_195dup MANE Select | ENSP00000316605.5:p.His66AlafsTer23 | |
| ENST00000681746.1:c.192_195dup | ENSP00000505959.1:p.His66AlafsTer23 | |
| ENST00000320005.5:c.192_195dup | ENSP00000316605.5:p.His66AlafsTer23 | |
| ENST00000519777.1:n.174_177dup | ||
| NM_019098.4:c.192_195dup | NP_061971.3:p.His66AlafsTer23 | |
| NM_019098.5:c.192_195dup MANE Select | NP_061971.3:p.His66AlafsTer23 |