Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64713672_64713673dup , CM000674.2:g.64713672_64713673dup | GRCh38 |
| NC_000012.11:g.65107452_65107453dup , CM000674.1:g.65107452_65107453dup | GRCh37 |
| NC_000012.10:g.63393719_63393720dup | NCBI36 |
| NG_008955.1:g.50774_50775dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002076.4:c.*3068_*3069dup MANE Select | NP_002067.1:n.*3068_*3069dup |
| ENST00000258145.8:c.*3068_*3069dup MANE Select | ENSP00000258145.3:n.*3068_*3069dup |
| NM_002076.3:c.*3068_*3069dup | NP_002067.1:n.*3068_*3069dup |
| ENST00000258145.7:c.*3068_*3069dup | ENSP00000258145.3:n.*3068_*3069dup |
| ENST00000418919.6:c.*3068_*3069dup | ENSP00000413130.2:n.*3068_*3069dup |