Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188991437_188991439del , CM000664.2:g.188991437_188991439del | GRCh38 |
| NC_000002.11:g.189856163_189856165del , CM000664.1:g.189856163_189856165del | GRCh37 |
| NC_000002.10:g.189564408_189564410del | NCBI36 |
| NG_007404.1:g.22065_22067del , LRG_3:g.22065_22067del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.853-50_853-48del | ENSP00000415346.2:n.853-50_853-48del | |
| ENST00000304636.9:c.853-50_853-48del MANE Select | ENSP00000304408.4:n.853-50_853-48del | |
| ENST00000304636.7:c.853-50_853-48del | ENSP00000304408.3:n.853-50_853-48del | |
| ENST00000317840.9:c.853-50_853-48del | ENSP00000315243.6:n.853-50_853-48del | |
| NM_000090.3:c.853-50_853-48del , LRG_3t1:c.853-50_853-48del | NP_000081.1:n.853-50_853-48del | |
| NM_000090.4:c.853-50_853-48del MANE Select | NP_000081.2:n.853-50_853-48del |