Linked Data
ClinVar Variation Id:
1693234
ClinVar RCV Id:
RCV002260493
dbSNP Id:
rs2136639639
ERepo:
CA16020900/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846931del , CM000674.2:g.102846931del | GRCh38 |
| NC_000012.11:g.103240709del , CM000674.1:g.103240709del | GRCh37 |
| NC_000012.10:g.101764839del | NCBI36 |
| NG_008690.1:g.75674del | |
| NG_008690.2:g.116482del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.935del MANE Select | ENSP00000448059.1:p.Gly312ValfsTer29 | |
| ENST00000307000.7:c.920del | ENSP00000303500.2:p.Gly307ValfsTer29 | |
| ENST00000549247.6:n.694del | ||
| ENST00000551114.2:n.597del | ||
| ENST00000553106.5:c.935del | ENSP00000448059.1:p.Gly312ValfsTer29 | |
| ENST00000635477.1:c.74-2498del | ||
| ENST00000635528.1:n.450del | ||
| NM_000277.1:c.935del | NP_000268.1:p.Gly312ValfsTer29 | |
| XM_011538422.1:c.913-2498del | XP_011536724.1:n.913-2498del | |
| NM_000277.2:c.935del | NP_000268.1:p.Gly312ValfsTer29 | |
| NM_001354304.1:c.935del | NP_001341233.1:p.Gly312ValfsTer29 | |
| NM_000277.3:c.935del MANE Select | NP_000268.1:p.Gly312ValfsTer29 | |
| NM_001354304.2:c.935del | NP_001341233.1:p.Gly312ValfsTer29 |