Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768337_115768338delinsGT , CM000663.2:g.115768337_115768338delinsGT | GRCh38 |
| NC_000001.10:g.116310958_116310959delinsGT , CM000663.1:g.116310958_116310959delinsGT | GRCh37 |
| NC_000001.9:g.116112481_116112482delinsGT | NCBI36 |
| NG_008802.1:g.5468_5469delinsAC , LRG_404:g.5468_5469delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-73_-72delinsAC | ENSP00000518226.1:n.-73_-72delinsAC | |
| ENST00000261448.6:c.204_205delinsAC MANE Select | ENSP00000261448.5:p.Lys68= | |
| ENST00000261448.5:c.204_205delinsAC | ENSP00000261448.5:p.Lys68= | |
| NM_001232.3:c.204_205delinsAC , LRG_404t1:c.204_205delinsAC | NP_001223.2:p.Lys68= | |
| NM_001232.4:c.204_205delinsAC MANE Select | NP_001223.2:p.Lys68= |