ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101453700_101453703dup , CM000673.2:g.101453700_101453703dup | GRCh38 |
| NC_000011.9:g.101324431_101324434dup , CM000673.1:g.101324431_101324434dup | GRCh37 |
| NC_000011.8:g.100829641_100829644dup | NCBI36 |
| NG_011476.1:g.135227_135230dup | |
| NG_011476.2:g.135227_135230dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.2592_2595dup MANE Select | ENSP00000340913.3:p.Tyr866LysfsTer10 | |
| ENST00000344327.7:c.2592_2595dup | ENSP00000340913.3:p.Tyr866LysfsTer10 | |
| ENST00000348423.8:c.2244_2247dup | ENSP00000343672.4:p.Tyr750LysfsTer10 | |
| ENST00000360497.4:c.2427_2430dup | ENSP00000353687.4:p.Tyr811LysfsTer10 | |
| ENST00000532133.5:c.2358_2361dup | ENSP00000435574.1:p.Tyr788LysfsTer10 | |
| ENST00000532184.1:n.584_587dup | ||
| NM_004621.5:c.2592_2595dup | NP_004612.2:p.Tyr866LysfsTer10 | |
| XM_006718898.2:c.2517_2520dup | XP_006718961.1:p.Tyr841LysfsTer10 | |
| XM_011542968.1:c.2427_2430dup | XP_011541270.1:p.Tyr811LysfsTer10 | |
| XM_011542968.3:c.2427_2430dup | XP_011541270.1:p.Tyr811LysfsTer10 | |
| XM_017018221.2:c.2244_2247dup | XP_016873710.1:p.Tyr750LysfsTer10 | |
| XR_001747948.2:n.2949_2952dup | ||
| NM_004621.6:c.2592_2595dup MANE Select | NP_004612.2:p.Tyr866LysfsTer10 |