Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709446_114709449del , CM000663.2:g.114709446_114709449del | GRCh38 |
| NC_000001.10:g.115252067_115252070del , CM000663.1:g.115252067_115252070del | GRCh37 |
| NC_000001.9:g.115053590_115053593del | NCBI36 |
| NG_007572.1:g.12448_12451del , LRG_92:g.12448_12451del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.450+122_450+125del MANE Select | ENSP00000358548.4:n.450+122_450+125del | |
| ENST00000369535.4:c.450+122_450+125del | ENSP00000358548.4:n.450+122_450+125del | |
| NM_002524.4:c.450+122_450+125del | NP_002515.1:n.450+122_450+125del | |
| NM_002524.5:c.450+122_450+125del MANE Select | NP_002515.1:n.450+122_450+125del |