Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353514_69353515dup , CM000674.2:g.69353514_69353515dup | GRCh38 |
| NC_000012.11:g.69747294_69747295dup , CM000674.1:g.69747294_69747295dup | GRCh37 |
| NC_000012.10:g.68033561_68033562dup | NCBI36 |
| NG_008195.1:g.10161_10162dup , LRG_768:g.10161_10162dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*295_*296dup MANE Select | ENSP00000261267.2:n.*295_*296dup | |
| ENST00000261267.6:c.*295_*296dup | ENSP00000261267.2:n.*295_*296dup | |
| NM_000239.2:c.*295_*296dup , LRG_768t1:c.*295_*296dup | NP_000230.1:n.*295_*296dup | |
| NM_000239.3:c.*295_*296dup MANE Select | NP_000230.1:n.*295_*296dup |