Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768253_115768257del , CM000663.2:g.115768253_115768257del | GRCh38 |
| NC_000001.10:g.116310874_116310878del , CM000663.1:g.116310874_116310878del | GRCh37 |
| NC_000001.9:g.116112397_116112401del | NCBI36 |
| NG_008802.1:g.5550_5554del , LRG_404:g.5550_5554del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-43+52_-43+56del | ENSP00000518226.1:n.-43+52_-43+56del | |
| ENST00000261448.6:c.234+52_234+56del MANE Select | ENSP00000261448.5:n.234+52_234+56del | |
| ENST00000261448.5:c.234+52_234+56del | ENSP00000261448.5:n.234+52_234+56del | |
| NM_001232.3:c.234+52_234+56del , LRG_404t1:c.234+52_234+56del | NP_001223.2:n.234+52_234+56del | |
| NM_001232.4:c.234+52_234+56del MANE Select | NP_001223.2:n.234+52_234+56del |