Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68438947_68438949dup , CM000663.2:g.68438947_68438949dup | GRCh38 |
| NC_000001.10:g.68904630_68904632dup , CM000663.1:g.68904630_68904632dup | GRCh37 |
| NC_000001.9:g.68677218_68677220dup | NCBI36 |
| NG_008472.1:g.16011_16013dup | |
| NG_008472.2:g.16011_16013dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.991_993dup MANE Select | NP_000320.1:p.Trp331_Lys332insTrp |
| ENST00000262340.6:c.991_993dup MANE Select | ENSP00000262340.5:p.Trp331_Lys332insTrp |
| NM_000329.2:c.991_993dup | NP_000320.1:p.Trp331_Lys332insTrp |
| ENST00000262340.5:c.991_993dup | ENSP00000262340.5:p.Trp331_Lys332insTrp |
| XM_017002027.1:c.715_717dup | XP_016857516.1:p.Trp239_Lys240insTrp |