Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429964_68429965dup , CM000663.2:g.68429964_68429965dup | GRCh38 |
| NC_000001.10:g.68895647_68895648dup , CM000663.1:g.68895647_68895648dup | GRCh37 |
| NC_000001.9:g.68668235_68668236dup | NCBI36 |
| NG_008472.1:g.24998_24999dup | |
| NG_008472.2:g.24998_24999dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-35_1451-34dup MANE Select | ENSP00000262340.5:n.1451-35_1451-34dup | |
| ENST00000262340.5:c.1451-35_1451-34dup | ENSP00000262340.5:n.1451-35_1451-34dup | |
| NM_000329.2:c.1451-35_1451-34dup | NP_000320.1:n.1451-35_1451-34dup | |
| XM_017002027.1:c.1175-35_1175-34dup | XP_016857516.1:n.1175-35_1175-34dup | |
| NM_000329.3:c.1451-35_1451-34dup MANE Select | NP_000320.1:n.1451-35_1451-34dup |