Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524502dup , CM000680.2:g.31524502dup | GRCh38 |
| NC_000018.9:g.29104465dup , CM000680.1:g.29104465dup | GRCh37 |
| NC_000018.8:g.27358463dup | NCBI36 |
| NG_007072.3:g.31261dup , LRG_397:g.31261dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.576dup | ||
| ENST00000683614.2:n.576dup | ||
| ENST00000682087.1:c.576dup | ||
| ENST00000683614.1:c.576dup | ||
| ENST00000261590.13:c.745dup MANE Select | ENSP00000261590.8:p.Thr249AsnfsTer19 | |
| ENST00000261590.12:c.745dup | ENSP00000261590.8:p.Thr249AsnfsTer19 | |
| NM_001943.3:c.745dup , LRG_397t1:c.745dup | NP_001934.2:p.Thr249AsnfsTer19 | |
| NM_001943.4:c.745dup | NP_001934.2:p.Thr249AsnfsTer19 | |
| XM_024451095.1:c.211dup | XP_024306863.1:p.Thr71AsnfsTer19 | |
| NM_001943.5:c.745dup MANE Select | NP_001934.2:p.Thr249AsnfsTer19 |