Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429969_68429970insAGG , CM000663.2:g.68429969_68429970insAGG | GRCh38 |
| NC_000001.10:g.68895652_68895653insAGG , CM000663.1:g.68895652_68895653insAGG | GRCh37 |
| NC_000001.9:g.68668240_68668241insAGG | NCBI36 |
| NG_008472.1:g.24990_24991insCCT | |
| NG_008472.2:g.24990_24991insCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-43_1451-42insCCT MANE Select | ENSP00000262340.5:n.1451-43_1451-42insCCT | |
| ENST00000262340.5:c.1451-43_1451-42insCCT | ENSP00000262340.5:n.1451-43_1451-42insCCT | |
| NM_000329.2:c.1451-43_1451-42insCCT | NP_000320.1:n.1451-43_1451-42insCCT | |
| XM_017002027.1:c.1175-43_1175-42insCCT | XP_016857516.1:n.1175-43_1175-42insCCT | |
| NM_000329.3:c.1451-43_1451-42insCCT MANE Select | NP_000320.1:n.1451-43_1451-42insCCT |