Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5046065_5046110dup , CM000674.2:g.5046065_5046110dup | GRCh38 |
| NC_000012.11:g.5155231_5155276dup , CM000674.1:g.5155231_5155276dup | GRCh37 |
| NC_000012.10:g.5025492_5025537dup | NCBI36 |
| NG_012198.1:g.7147_7192dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.*76_*121dup MANE Select | ENSP00000252321.3:n.*76_*121dup | |
| ENST00000252321.4:c.*76_*121dup | ENSP00000252321.3:n.*76_*121dup | |
| NM_002234.3:c.*76_*121dup | NP_002225.2:n.*76_*121dup | |
| NM_002234.4:c.*76_*121dup MANE Select | NP_002225.2:n.*76_*121dup |