Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002399del , CM000664.2:g.21002399del | GRCh38 |
| NC_000002.11:g.21225271del , CM000664.1:g.21225271del | GRCh37 |
| NC_000002.10:g.21078776del | NCBI36 |
| NG_011793.1:g.46677del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000384.3:c.13025del MANE Select | NP_000375.3:p.Pro4342HisfsTer7 |
| ENST00000233242.5:c.13025del MANE Select | ENSP00000233242.1:p.Pro4342HisfsTer7 |
| NM_000384.2:c.13025del | NP_000375.2:p.Pro4342HisfsTer7 |
| ENST00000616098.4:c.13025del | ENSP00000477990.1:p.Pro4342HisfsTer? |
| XM_011532809.1:c.5870-3124del | XP_011531111.1:n.5870-3124del |