gnomAD v4:
Joint Max Group AF
8.2e-7 (NFE)
Exomes Max Group AF
8.7e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965660_37965670del , CM000670.2:g.37965660_37965670del | GRCh38 |
| NC_000008.10:g.37823178_37823188del , CM000670.1:g.37823178_37823188del | GRCh37 |
| NC_000008.9:g.37942335_37942345del | NCBI36 |
| NG_011936.1:g.5997_6007del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.800_810del MANE Select | ENSP00000343782.3:p.Ala267GlyfsTer? | |
| ENST00000520341.2:n.928_938del | ||
| ENST00000647937.1:c.284_294del | ENSP00000497740.1:p.Ala95GlyfsTer? | |
| ENST00000345060.4:c.800_810del | ENSP00000343782.3:p.Ala267GlyfsTer? | |
| ENST00000520341.1:n.75_85del | ||
| ENST00000614635.1:c.800_810del | ENSP00000480325.1:p.Ala267GlyfsTer? | |
| NM_000025.2:c.800_810del | NP_000016.1:p.Ala267GlyfsTer? | |
| NM_000025.3:c.800_810del MANE Select | NP_000016.1:p.Ala267GlyfsTer? |