Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68430010_68430011insTT , CM000663.2:g.68430010_68430011insTT | GRCh38 |
| NC_000001.10:g.68895693_68895694insTT , CM000663.1:g.68895693_68895694insTT | GRCh37 |
| NC_000001.9:g.68668281_68668282insTT | NCBI36 |
| NG_008472.1:g.24949_24950insAA | |
| NG_008472.2:g.24949_24950insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-84_1451-83insAA MANE Select | ENSP00000262340.5:n.1451-84_1451-83insAA | |
| ENST00000262340.5:c.1451-84_1451-83insAA | ENSP00000262340.5:n.1451-84_1451-83insAA | |
| NM_000329.2:c.1451-84_1451-83insAA | NP_000320.1:n.1451-84_1451-83insAA | |
| XM_017002027.1:c.1175-84_1175-83insAA | XP_016857516.1:n.1175-84_1175-83insAA | |
| NM_000329.3:c.1451-84_1451-83insAA MANE Select | NP_000320.1:n.1451-84_1451-83insAA |