Linked Data
ClinVar Variation Id:
805819
ClinVar RCV Id:
RCV000993636
dbSNP Id:
rs1592953143
ERepo:
CA16020846/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852952del , CM000674.2:g.102852952del | GRCh38 |
| NC_000012.11:g.103246730del , CM000674.1:g.103246730del | GRCh37 |
| NC_000012.10:g.101770860del | NCBI36 |
| NG_008690.1:g.69651del | |
| NG_008690.2:g.110459del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.707-2del MANE Select | ENSP00000448059.1:n.707-2del | |
| ENST00000307000.7:c.692-2del | ENSP00000303500.2:n.692-2del | |
| ENST00000549247.6:n.464del | ||
| ENST00000553106.5:c.707-2del | ENSP00000448059.1:n.707-2del | |
| NM_000277.1:c.707-2del | NP_000268.1:n.707-2del | |
| XM_011538422.1:c.707-2del | XP_011536724.1:n.707-2del | |
| NM_000277.2:c.707-2del | NP_000268.1:n.707-2del | |
| NM_001354304.1:c.707-2del | NP_001341233.1:n.707-2del | |
| NM_000277.3:c.707-2del MANE Select | NP_000268.1:n.707-2del | |
| NM_001354304.2:c.707-2del | NP_001341233.1:n.707-2del |