Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779847_215779848dup , CM000663.2:g.215779847_215779848dup | GRCh38 |
| NC_000001.10:g.215953189_215953190dup , CM000663.1:g.215953189_215953190dup | GRCh37 |
| NC_000001.9:g.214019812_214019813dup | NCBI36 |
| NG_009497.1:g.648549_648550dup | |
| NG_009497.2:g.648601_648602dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10934_10935dup MANE Select | ENSP00000305941.3:p.Thr3646SerfsTer29 | |
| ENST00000674083.1:c.10934_10935dup | ENSP00000501296.1:p.Thr3646SerfsTer29 | |
| ENST00000307340.7:c.10934_10935dup | ENSP00000305941.3:p.Thr3646SerfsTer29 | |
| NM_206933.2:c.10934_10935dup | NP_996816.2:p.Thr3646SerfsTer29 | |
| NM_206933.3:c.10934_10935dup | NP_996816.2:p.Thr3646SerfsTer29 | |
| NM_206933.4:c.10934_10935dup MANE Select | NP_996816.3:p.Thr3646SerfsTer29 |