This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965681del , CM000670.2:g.37965681del | GRCh38 |
| NC_000008.10:g.37823199del , CM000670.1:g.37823199del | GRCh37 |
| NC_000008.9:g.37942356del | NCBI36 |
| NG_011936.1:g.5989del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.792del MANE Select | ENSP00000343782.3:p.Thr265ArgfsTer? | |
| ENST00000520341.2:n.920del | ||
| ENST00000647937.1:c.276del | ENSP00000497740.1:p.Thr93ArgfsTer? | |
| ENST00000345060.4:c.792del | ENSP00000343782.3:p.Thr265ArgfsTer? | |
| ENST00000520341.1:n.67del | ||
| ENST00000614635.1:c.792del | ENSP00000480325.1:p.Thr265ArgfsTer? | |
| NM_000025.2:c.792del | NP_000016.1:p.Thr265ArgfsTer? | |
| NM_000025.3:c.792del MANE Select | NP_000016.1:p.Thr265ArgfsTer? |