Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740150_153740151delinsCA , CM000685.2:g.153740150_153740151delinsCA | GRCh38 |
| NC_000023.10:g.153005604_153005605delinsCA , CM000685.1:g.153005604_153005605delinsCA | GRCh37 |
| NC_000023.9:g.152658798_152658799delinsCA | NCBI36 |
| NG_009022.2:g.20283_20284delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.1547_1548delinsCA MANE Select | NP_000024.2:p.Leu516Pro |
| ENST00000218104.6:c.1547_1548delinsCA MANE Select | ENSP00000218104.3:p.Leu516Pro |
| NM_000033.3:c.1547_1548delinsCA | NP_000024.2:p.Leu516Pro |
| ENST00000218104.5:c.1547_1548delinsCA | ENSP00000218104.3:p.Leu516Pro |
| ENST00000443684.2:n.550_551delinsCA | |
| XR_938507.1:n.2019_2020delinsCA | |
| XR_938507.2:n.2019_2020delinsCA |