Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19966989_19966990dup , CM000670.2:g.19966989_19966990dup | GRCh38 |
| NC_000008.10:g.19824500_19824501dup , CM000670.1:g.19824500_19824501dup | GRCh37 |
| NC_000008.9:g.19868780_19868781dup | NCBI36 |
| NG_008855.1:g.32919_32920dup | |
| NG_008855.2:g.70273_70274dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.*1679_*1680dup MANE Select | ENSP00000497642.1:n.*1679_*1680dup | |
| ENST00000650478.1:c.2047_2048dup | ENSP00000497560.1:n.2047_2048dup | |
| ENST00000311322.8:c.*1679_*1680dup | ENSP00000309757.6:n.*1679_*1680dup | |
| NM_000237.2:c.*1679_*1680dup | NP_000228.1:n.*1679_*1680dup | |
| NM_000237.3:c.*1679_*1680dup MANE Select | NP_000228.1:n.*1679_*1680dup |