Linked Data
ClinVar Variation Id:
1693242
ClinVar RCV Id:
RCV002260501
dbSNP Id:
rs2136663420
ERepo:
CA16020796/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866644_102866651dup , CM000674.2:g.102866644_102866651dup | GRCh38 |
| NC_000012.11:g.103260422_103260429dup , CM000674.1:g.103260422_103260429dup | GRCh37 |
| NC_000012.10:g.101784552_101784559dup | NCBI36 |
| NG_008690.1:g.55954_55961dup | |
| NG_008690.2:g.96762_96769dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.456_463dup MANE Select | ENSP00000448059.1:p.Arg155LeufsTer? | |
| ENST00000307000.7:c.441_448dup | ENSP00000303500.2:p.Arg150LeufsTer? | |
| ENST00000549111.5:n.552_559dup | ||
| ENST00000551988.5:n.530+10813_530+10820dup | ||
| ENST00000553106.5:c.456_463dup | ENSP00000448059.1:p.Arg155LeufsTer? | |
| NM_000277.1:c.456_463dup | NP_000268.1:p.Arg155LeufsTer? | |
| XM_011538422.1:c.456_463dup | XP_011536724.1:p.Arg155LeufsTer? | |
| NM_000277.2:c.456_463dup | NP_000268.1:p.Arg155LeufsTer? | |
| NM_001354304.1:c.456_463dup | NP_001341233.1:p.Arg155LeufsTer? | |
| XM_017019370.2:c.456_463dup | XP_016874859.1:p.Arg155LeufsTer? | |
| NM_000277.3:c.456_463dup MANE Select | NP_000268.1:p.Arg155LeufsTer? | |
| NM_001354304.2:c.456_463dup | NP_001341233.1:p.Arg155LeufsTer? |