Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68438255dup , CM000663.2:g.68438255dup | GRCh38 |
| NC_000001.10:g.68903938dup , CM000663.1:g.68903938dup | GRCh37 |
| NC_000001.9:g.68676526dup | NCBI36 |
| NG_008472.1:g.16712dup | |
| NG_008472.2:g.16712dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.1067dup MANE Select | NP_000320.1:p.Asn356LysfsTer9 |
| ENST00000262340.6:c.1067dup MANE Select | ENSP00000262340.5:p.Asn356LysfsTer9 |
| NM_000329.2:c.1067dup | NP_000320.1:p.Asn356LysfsTer9 |
| ENST00000262340.5:c.1067dup | ENSP00000262340.5:p.Asn356LysfsTer9 |
| XM_017002027.1:c.791dup | XP_016857516.1:p.Asn264LysfsTer9 |