Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352965_99352966del , CM000666.2:g.99352965_99352966del | GRCh38 |
| NC_000004.11:g.100274122_100274123del , CM000666.1:g.100274122_100274123del | GRCh37 |
| NC_000004.10:g.100493145_100493146del | NCBI36 |
| NG_011718.1:g.4796_4797del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-290_-289del | ENSP00000426083.1:n.-290_-289del | |
| NM_000669.4:c.-290_-289del | NP_000660.1:n.-290_-289del | |
| NR_133005.1:n.81_82del | ||
| XM_011531588.1:c.-290_-289del | XP_011529890.1:n.-290_-289del | |
| XM_011531589.1:c.-530_-529del | XP_011529891.1:n.-530_-529del |