Linked Data
ClinVar Variation Id:
987777
ClinVar RCV Id:
RCV001269076
dbSNP Id:
rs1875366372
ERepo:
CA16020829/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855236dup , CM000674.2:g.102855236dup | GRCh38 |
| NC_000012.11:g.103249014dup , CM000674.1:g.103249014dup | GRCh37 |
| NC_000012.10:g.101773144dup | NCBI36 |
| NG_008690.1:g.67368dup | |
| NG_008690.2:g.108176dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.607dup MANE Select | ENSP00000448059.1:p.Cys203LeufsTer3 | |
| ENST00000307000.7:c.592dup | ENSP00000303500.2:p.Cys198LeufsTer3 | |
| ENST00000549111.5:n.703dup | ||
| ENST00000553106.5:c.607dup | ENSP00000448059.1:p.Cys203LeufsTer3 | |
| NM_000277.1:c.607dup | NP_000268.1:p.Cys203LeufsTer3 | |
| XM_011538422.1:c.607dup | XP_011536724.1:p.Cys203LeufsTer3 | |
| NM_000277.2:c.607dup | NP_000268.1:p.Cys203LeufsTer3 | |
| NM_001354304.1:c.607dup | NP_001341233.1:p.Cys203LeufsTer3 | |
| XM_017019370.2:c.607dup | XP_016874859.1:p.Cys203LeufsTer3 | |
| NM_000277.3:c.607dup MANE Select | NP_000268.1:p.Cys203LeufsTer3 | |
| NM_001354304.2:c.607dup | NP_001341233.1:p.Cys203LeufsTer3 |