Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68430007_68430008insAGTT , CM000663.2:g.68430007_68430008insAGTT | GRCh38 |
| NC_000001.10:g.68895690_68895691insAGTT , CM000663.1:g.68895690_68895691insAGTT | GRCh37 |
| NC_000001.9:g.68668278_68668279insAGTT | NCBI36 |
| NG_008472.1:g.24952_24953insAACT | |
| NG_008472.2:g.24952_24953insAACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-81_1451-80insAACT MANE Select | ENSP00000262340.5:n.1451-81_1451-80insAACT | |
| ENST00000262340.5:c.1451-81_1451-80insAACT | ENSP00000262340.5:n.1451-81_1451-80insAACT | |
| NM_000329.2:c.1451-81_1451-80insAACT | NP_000320.1:n.1451-81_1451-80insAACT | |
| XM_017002027.1:c.1175-81_1175-80insAACT | XP_016857516.1:n.1175-81_1175-80insAACT | |
| NM_000329.3:c.1451-81_1451-80insAACT MANE Select | NP_000320.1:n.1451-81_1451-80insAACT |