Linked Data
ClinVar Variation Id:
2199613
ClinVar RCV Id:
RCV002625033
dbSNP Id:
rs760154610
ExAC:
4:6303901 CGAG / C
gnomAD v2:
4-6303901-CGAG-C
gnomAD v3:
4-6302174-CGAG-C
gnomAD v4:
4-6302174-CGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302180_6302182del , CM000666.2:g.6302180_6302182del | GRCh38 |
| NC_000004.11:g.6303907_6303909del , CM000666.1:g.6303907_6303909del | GRCh37 |
| NC_000004.10:g.6354808_6354810del | NCBI36 |
| NG_011700.1:g.37331_37333del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682275.1:c.2421_2423del | ENSP00000507852.1:p.Glu807del | |
| ENST00000683395.1:c.2362_2364del | ||
| ENST00000684087.1:c.2385_2387del | ENSP00000506978.1:p.Glu795del | |
| ENST00000506362.2:c.2136_2138del | ENSP00000424103.2:p.Glu712del | |
| ENST00000673991.1:c.2421_2423del | ENSP00000501033.1:p.Glu807del | |
| ENST00000226760.5:c.2385_2387del MANE Select | ENSP00000226760.1:p.Glu795del | |
| ENST00000503569.5:c.2385_2387del | ENSP00000423337.1:p.Glu795del | |
| ENST00000507765.1:n.2570_2572del | ||
| NM_001145853.1:c.2385_2387del | NP_001139325.1:p.Glu795del | |
| NM_006005.3:c.2385_2387del MANE Select | NP_005996.2:p.Glu795del | |
| XM_017008586.1:c.2394_2396del | XP_016864075.1:p.Glu798del |