Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648941del , CM000669.2:g.152648941del | GRCh38 |
| NC_000007.13:g.152346026del , CM000669.1:g.152346026del | GRCh37 |
| NC_000007.12:g.151976959del | NCBI36 |
| NG_027988.1:g.32226del | |
| NG_027988.2:g.32226del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.377del | ENSP00000513758.1:p.Lys126SerfsTer3 | |
| ENST00000359321.2:c.545del MANE Select | ENSP00000352271.1:p.Lys182SerfsTer3 | |
| ENST00000359321.1:c.545del | ENSP00000352271.1:p.Lys182SerfsTer3 | |
| ENST00000495707.1:n.567del | ||
| NM_005431.1:c.545del | NP_005422.1:p.Lys182SerfsTer3 | |
| NM_005431.2:c.545del MANE Select | NP_005422.1:p.Lys182SerfsTer3 |