Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740153_153740154delinsTC , CM000685.2:g.153740153_153740154delinsTC | GRCh38 |
| NC_000023.10:g.153005607_153005608delinsTC , CM000685.1:g.153005607_153005608delinsTC | GRCh37 |
| NC_000023.9:g.152658801_152658802delinsTC | NCBI36 |
| NG_009022.2:g.20286_20287delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1550_1551delinsTC MANE Select | ENSP00000218104.3:p.Phe517= | |
| ENST00000218104.5:c.1550_1551delinsTC | ENSP00000218104.3:p.Phe517= | |
| ENST00000443684.2:n.553_554delinsTC | ||
| NM_000033.3:c.1550_1551delinsTC | NP_000024.2:p.Phe517= | |
| XR_938507.1:n.2022_2023delinsTC | ||
| XR_938507.2:n.2022_2023delinsTC | ||
| NM_000033.4:c.1550_1551delinsTC MANE Select | NP_000024.2:p.Phe517= |