Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728276_215728282dup , CM000663.2:g.215728276_215728282dup | GRCh38 |
| NC_000001.10:g.215901618_215901624dup , CM000663.1:g.215901618_215901624dup | GRCh37 |
| NC_000001.9:g.213968241_213968247dup | NCBI36 |
| NG_009497.1:g.700117_700123dup | |
| NG_009497.2:g.700169_700175dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11816_11822dup MANE Select | ENSP00000305941.3:p.Val3942IlefsTer7 | |
| ENST00000674083.1:c.11816_11822dup | ENSP00000501296.1:p.Val3942IlefsTer7 | |
| ENST00000307340.7:c.11816_11822dup | ENSP00000305941.3:p.Val3942IlefsTer7 | |
| NM_206933.2:c.11816_11822dup | NP_996816.2:p.Val3942IlefsTer7 | |
| NM_206933.3:c.11816_11822dup | NP_996816.2:p.Val3942IlefsTer7 | |
| NM_206933.4:c.11816_11822dup MANE Select | NP_996816.3:p.Val3942IlefsTer7 |