Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21012564del , CM000664.2:g.21012564del | GRCh38 |
| NC_000002.11:g.21235436del , CM000664.1:g.21235436del | GRCh37 |
| NC_000002.10:g.21088941del | NCBI36 |
| NG_011793.1:g.36510del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*3610del | ENSP00000501110.2:n.*3610del | |
| ENST00000673739.1:c.4018del | ENSP00000501110.1:n.4018del | |
| ENST00000233242.5:c.4304del MANE Select | ENSP00000233242.1:p.Ile1435ThrfsTer6 | |
| ENST00000616098.4:c.4304del | ENSP00000477990.1:p.Ile1435ThrfsTer6 | |
| NM_000384.2:c.4304del | NP_000375.2:p.Ile1435ThrfsTer6 | |
| XM_011532809.1:c.4304del | XP_011531111.1:p.Ile1435ThrfsTer6 | |
| NM_000384.3:c.4304del MANE Select | NP_000375.3:p.Ile1435ThrfsTer6 |