Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571617_154571619del , CM000663.2:g.154571617_154571619del | GRCh38 |
| NC_000001.10:g.154544093_154544095del , CM000663.1:g.154544093_154544095del | GRCh37 |
| NC_000001.9:g.152810717_152810719del | NCBI36 |
| NG_008027.1:g.8837_8839del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.794_796del MANE Select | ENSP00000357461.3:p.Lys265del | |
| ENST00000636034.1:c.794_796del | ENSP00000489703.1:p.Lys265del | |
| ENST00000637900.1:c.800_802del | ENSP00000490474.1:p.Lys267del | |
| ENST00000368476.3:c.794_796del | ENSP00000357461.3:p.Lys265del | |
| NM_000748.2:c.794_796del | NP_000739.1:p.Lys265del | |
| XM_017000180.2:c.284_286del | XP_016855669.1:p.Lys95del | |
| XR_001736952.2:n.1046_1048del | ||
| NM_000748.3:c.794_796del MANE Select | NP_000739.1:p.Lys265del |