Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740607_153740609delinsGGT , CM000685.2:g.153740607_153740609delinsGGT | GRCh38 |
| NC_000023.10:g.153006061_153006063delinsGGT , CM000685.1:g.153006061_153006063delinsGGT | GRCh37 |
| NC_000023.9:g.152659255_152659257delinsGGT | NCBI36 |
| NG_009022.2:g.20740_20742delinsGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1668_1670delinsGGT MANE Select | ENSP00000218104.3:p.Gln556= | |
| ENST00000218104.5:c.1668_1670delinsGGT | ENSP00000218104.3:p.Gln556= | |
| NM_000033.3:c.1668_1670delinsGGT | NP_000024.2:p.Gln556= | |
| XR_938507.1:n.2140_2142delinsGGT | ||
| XR_938507.2:n.2140_2142delinsGGT | ||
| NM_000033.4:c.1668_1670delinsGGT MANE Select | NP_000024.2:p.Gln556= |