ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852857dup , CM000674.2:g.102852857dup | GRCh38 |
| NC_000012.11:g.103246635dup , CM000674.1:g.103246635dup | GRCh37 |
| NC_000012.10:g.101770765dup | NCBI36 |
| NG_008690.1:g.69746dup | |
| NG_008690.2:g.110554dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.800dup MANE Select | ENSP00000448059.1:p.Tyr268ValfsTer15 | |
| ENST00000307000.7:c.785dup | ENSP00000303500.2:p.Tyr263ValfsTer15 | |
| ENST00000549247.6:n.559dup | ||
| ENST00000553106.5:c.800dup | ENSP00000448059.1:p.Tyr268ValfsTer15 | |
| NM_000277.1:c.800dup | NP_000268.1:p.Tyr268ValfsTer15 | |
| XM_011538422.1:c.800dup | XP_011536724.1:p.Tyr268ValfsTer15 | |
| NM_000277.2:c.800dup | NP_000268.1:p.Tyr268ValfsTer15 | |
| NM_001354304.1:c.800dup | NP_001341233.1:p.Tyr268ValfsTer15 | |
| NM_000277.3:c.800dup MANE Select | NP_000268.1:p.Tyr268ValfsTer15 | |
| NM_001354304.2:c.800dup | NP_001341233.1:p.Tyr268ValfsTer15 |