Linked Data
ClinVar Variation Id:
497102
dbSNP Id:
rs770694933
ExAC:
11:22297694 GC / G
gnomAD v2:
11-22297694-GC-G
gnomAD v3:
11-22276148-GC-G
gnomAD v4:
11-22276148-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22276149del , CM000673.2:g.22276149del | GRCh38 |
| NC_000011.9:g.22297695del , CM000673.1:g.22297695del | GRCh37 |
| NC_000011.8:g.22254271del | NCBI36 |
| NG_015844.1:g.87974del , LRG_868:g.87974del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000532043.2:n.487del | ||
| ENST00000682266.1:c.2020del | ENSP00000507766.1:p.Gln674AsnfsTer10 | |
| ENST00000682341.1:c.2428del | ENSP00000508251.1:p.Gln810AsnfsTer10 | |
| ENST00000683197.1:c.2372+1402del | ENSP00000507641.1:n.2372+1402del | |
| ENST00000683411.1:c.2020del | ENSP00000508397.1:p.Gln674AsnfsTer10 | |
| ENST00000683437.1:c.2020del | ENSP00000508408.1:p.Gln674AsnfsTer10 | |
| ENST00000683613.1:n.3464del | ||
| ENST00000684663.1:c.2425del | ENSP00000508009.1:p.Gln809AsnfsTer10 | |
| ENST00000324559.9:c.2470del MANE Select | ENSP00000315371.9:p.Gln824AsnfsTer10 | |
| ENST00000648804.1:n.2805del | ||
| ENST00000324559.8:c.2470del | ENSP00000315371.8:p.Gln824AsnfsTer10 | |
| ENST00000532043.1:n.487del | ||
| NM_001142649.1:c.2467del | NP_001136121.1:p.Gln823AsnfsTer10 | |
| NM_213599.2:c.2470del , LRG_868t1:c.2470del | NP_998764.1:p.Gln824AsnfsTer10 | |
| XM_005252820.2:c.2428del | XP_005252877.2:p.Gln810AsnfsTer10 | |
| XM_005252821.2:c.2425del | XP_005252878.2:p.Gln809AsnfsTer10 | |
| XM_005252822.3:c.2392del | XP_005252879.1:p.Gln798AsnfsTer10 | |
| XM_005252823.3:c.2389del | XP_005252880.1:p.Gln797AsnfsTer10 | |
| XM_011519949.1:c.2377del | XP_011518251.1:p.Gln793AsnfsTer10 | |
| XM_005252820.3:c.2428del | XP_005252877.2:p.Gln810AsnfsTer10 | |
| XM_005252821.3:c.2425del | XP_005252878.2:p.Gln809AsnfsTer10 | |
| XM_005252822.4:c.2392del | XP_005252879.1:p.Gln798AsnfsTer10 | |
| XM_011519949.2:c.2377del | XP_011518251.1:p.Gln793AsnfsTer10 | |
| NM_001142649.2:c.2467del | NP_001136121.1:p.Gln823AsnfsTer10 | |
| NM_213599.3:c.2470del MANE Select | NP_998764.1:p.Gln824AsnfsTer10 |