Linked Data
ClinVar Variation Id:
292891
dbSNP Id:
rs1799770
ExAC:
1:156848909 CA / C
gnomAD v2:
1-156848909-CA-C
gnomAD v3:
1-156879117-CA-C
gnomAD v4:
1-156879117-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156879118del , CM000663.2:g.156879118del | GRCh38 |
| NC_000001.10:g.156848910del , CM000663.1:g.156848910del | GRCh37 |
| NC_000001.9:g.155115534del | NCBI36 |
| NG_007493.1:g.68369del , LRG_261:g.68369del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.1626-4del | ENSP00000502725.1:n.1626-4del | |
| ENST00000392302.7:c.1626-4del | ENSP00000376120.3:n.1626-4del | |
| ENST00000497019.7:c.*398-4del | ENSP00000436804.2:n.*398-4del | |
| ENST00000524377.7:c.1806-4del MANE Select | ENSP00000431418.1:n.1806-4del | |
| ENST00000674537.1:c.1626-4del | ENSP00000502725.1:n.1626-4del | |
| ENST00000358660.3:c.1797-4del | ENSP00000351486.3:n.1797-4del | |
| ENST00000368196.7:c.1788-4del | ENSP00000357179.3:n.1788-4del | |
| ENST00000392302.6:c.1698-4del | ENSP00000376120.2:n.1698-4del | |
| ENST00000497019.6:c.*398-4del | ENSP00000436804.1:n.*398-4del | |
| ENST00000524377.5:c.1806-4del | ENSP00000431418.1:n.1806-4del | |
| ENST00000530298.5:n.2259-4del | ||
| NM_001007792.1:c.1698-4del , LRG_261t1:c.1698-4del | NP_001007793.1:n.1698-4del | |
| NM_001012331.1:c.1788-4del , LRG_261t2:c.1788-4del | NP_001012331.1:n.1788-4del | |
| NM_002529.3:c.1806-4del , LRG_261t3:c.1806-4del | NP_002520.2:n.1806-4del | |
| NM_001012331.2:c.1788-4del | NP_001012331.1:n.1788-4del | |
| NM_002529.4:c.1806-4del MANE Select | NP_002520.2:n.1806-4del |