Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99985400del , CM000675.2:g.99985400del | GRCh38 |
| NC_000013.10:g.100637654del , CM000675.1:g.100637654del | GRCh37 |
| NC_000013.9:g.99435655del | NCBI36 |
| NG_007085.2:g.8336del | |
| NG_007085.3:g.8645del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1317del MANE Select | ENSP00000365514.3:p.Leu440TrpfsTer? | |
| ENST00000376335.7:c.1317del | ENSP00000365514.3:p.Leu440TrpfsTer? | |
| ENST00000468291.1:n.291del | ||
| ENST00000477213.1:n.399del | ||
| ENST00000490085.5:n.363del | ||
| ENST00000620342.1:c.1314del | ENSP00000481510.1:p.Leu439TrpfsTer? | |
| NM_007129.3:c.1317del | NP_009060.2:p.Leu440TrpfsTer? | |
| XM_011521110.1:c.*70del | XP_011519412.1:n.*70del | |
| NM_007129.4:c.1317del | NP_009060.2:p.Leu440TrpfsTer? | |
| NM_007129.5:c.1317del MANE Select | NP_009060.2:p.Leu440TrpfsTer? |