Linked Data
ClinVar Variation Id:
39277
dbSNP Id:
rs137854528
ExAC:
11:22296185 CCA / C
gnomAD v2:
11-22296185-CCA-C
gnomAD v3:
11-22274639-CCA-C
gnomAD v4:
11-22274639-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22274644_22274645del , CM000673.2:g.22274644_22274645del | GRCh38 |
| NC_000011.9:g.22296190_22296191del , CM000673.1:g.22296190_22296191del | GRCh37 |
| NC_000011.8:g.22252766_22252767del | NCBI36 |
| NG_015844.1:g.86469_86470del , LRG_868:g.86469_86470del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000532043.2:n.328_329del | ||
| ENST00000682266.1:c.1861_1862del | ENSP00000507766.1:p.Gln621AlafsTer8 | |
| ENST00000682341.1:c.2269_2270del | ENSP00000508251.1:p.Gln757AlafsTer8 | |
| ENST00000683197.1:c.2269_2270del | ENSP00000507641.1:p.Gln757AlafsTer8 | |
| ENST00000683411.1:c.1861_1862del | ENSP00000508397.1:p.Gln621AlafsTer8 | |
| ENST00000683437.1:c.1861_1862del | ENSP00000508408.1:p.Gln621AlafsTer8 | |
| ENST00000683613.1:n.3305_3306del | ||
| ENST00000684663.1:c.2266_2267del | ENSP00000508009.1:p.Gln756AlafsTer8 | |
| ENST00000324559.9:c.2311_2312del MANE Select | ENSP00000315371.9:p.Gln771AlafsTer8 | |
| ENST00000648804.1:n.2646_2647del | ||
| ENST00000324559.8:c.2311_2312del | ENSP00000315371.8:p.Gln771AlafsTer8 | |
| ENST00000532043.1:n.328_329del | ||
| NM_001142649.1:c.2308_2309del | NP_001136121.1:p.Gln770AlafsTer8 | |
| NM_213599.2:c.2311_2312del , LRG_868t1:c.2311_2312del | NP_998764.1:p.Gln771AlafsTer8 | |
| XM_005252820.2:c.2269_2270del | XP_005252877.2:p.Gln757AlafsTer8 | |
| XM_005252821.2:c.2266_2267del | XP_005252878.2:p.Gln756AlafsTer8 | |
| XM_005252822.3:c.2233_2234del | XP_005252879.1:p.Gln745AlafsTer8 | |
| XM_005252823.3:c.2230_2231del | XP_005252880.1:p.Gln744AlafsTer8 | |
| XM_011519949.1:c.2218_2219del | XP_011518251.1:p.Gln740AlafsTer8 | |
| XM_005252820.3:c.2269_2270del | XP_005252877.2:p.Gln757AlafsTer8 | |
| XM_005252821.3:c.2266_2267del | XP_005252878.2:p.Gln756AlafsTer8 | |
| XM_005252822.4:c.2233_2234del | XP_005252879.1:p.Gln745AlafsTer8 | |
| XM_011519949.2:c.2218_2219del | XP_011518251.1:p.Gln740AlafsTer8 | |
| NM_001142649.2:c.2308_2309del | NP_001136121.1:p.Gln770AlafsTer8 | |
| NM_213599.3:c.2311_2312del MANE Select | NP_998764.1:p.Gln771AlafsTer8 |