Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114714013_114714016dup , CM000663.2:g.114714013_114714016dup | GRCh38 |
| NC_000001.10:g.115256634_115256637dup , CM000663.1:g.115256634_115256637dup | GRCh37 |
| NC_000001.9:g.115058157_115058160dup | NCBI36 |
| NG_007572.1:g.7888_7891dup , LRG_92:g.7888_7891dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.112-29_112-26dup MANE Select | ENSP00000358548.4:n.112-29_112-26dup | |
| ENST00000369535.4:c.112-29_112-26dup | ENSP00000358548.4:n.112-29_112-26dup | |
| NM_002524.4:c.112-29_112-26dup | NP_002515.1:n.112-29_112-26dup | |
| NM_002524.5:c.112-29_112-26dup MANE Select | NP_002515.1:n.112-29_112-26dup |