gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218436036del , CM000663.2:g.218436036del | GRCh38 |
| NC_000001.10:g.218609378del , CM000663.1:g.218609378del | GRCh37 |
| NC_000001.9:g.216676001del | NCBI36 |
| NG_027721.1:g.95703del | |
| NG_027721.2:g.95703del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.821del MANE Select | ENSP00000355897.4:p.Asn274ThrfsTer10 | |
| ENST00000366929.4:c.905del | ENSP00000355896.4:p.Asn302ThrfsTer10 | |
| ENST00000366930.8:c.821del | ENSP00000355897.4:p.Asn274ThrfsTer10 | |
| ENST00000479322.1:n.305del | ||
| NM_001135599.2:c.905del | NP_001129071.1:p.Asn302ThrfsTer10 | |
| NM_003238.3:c.821del | NP_003229.1:p.Asn274ThrfsTer10 | |
| NM_001135599.3:c.905del | NP_001129071.1:p.Asn302ThrfsTer10 | |
| NM_003238.4:c.821del | NP_003229.1:p.Asn274ThrfsTer10 | |
| NR_138148.1:n.2173-49del | ||
| NR_138149.1:n.2257-49del | ||
| NM_003238.5:c.821del | NP_003229.1:p.Asn274ThrfsTer10 | |
| NM_003238.6:c.821del MANE Select | NP_003229.1:p.Asn274ThrfsTer10 | |
| NM_001135599.4:c.905del | NP_001129071.1:p.Asn302ThrfsTer10 | |
| NR_138148.2:n.2121-49del | ||
| NR_138149.2:n.2205-49del |