Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660557_152660558del , CM000669.2:g.152660557_152660558del | GRCh38 |
| NC_000007.13:g.152357642_152357643del , CM000669.1:g.152357642_152357643del | GRCh37 |
| NC_000007.12:g.151988575_151988576del | NCBI36 |
| NG_027988.1:g.20609_20610del | |
| NG_027988.2:g.20609_20610del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-47-11194_-47-11193del | ENSP00000513758.1:n.-47-11194_-47-11193del | |
| ENST00000698507.1:n.333_334del | ||
| ENST00000359321.2:c.121+144_121+145del MANE Select | ENSP00000352271.1:n.121+144_121+145del | |
| ENST00000359321.1:c.121+144_121+145del | ENSP00000352271.1:n.121+144_121+145del | |
| ENST00000495707.1:n.143+144_143+145del | ||
| NM_005431.1:c.121+144_121+145del | NP_005422.1:n.121+144_121+145del | |
| NM_005431.2:c.121+144_121+145del MANE Select | NP_005422.1:n.121+144_121+145del |