Linked Data
ClinVar Variation Id:
507160
dbSNP Id:
rs760605373
ExAC:
2:86444247 CAGAA / C
gnomAD v2:
2-86444247-CAGAA-C
gnomAD v3:
2-86217124-CAGAA-C
gnomAD v4:
2-86217124-CAGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86217127_86217130del , CM000664.2:g.86217127_86217130del | GRCh38 |
| NC_000002.11:g.86444250_86444253del , CM000664.1:g.86444250_86444253del | GRCh37 |
| NC_000002.10:g.86297761_86297764del | NCBI36 |
| NG_013037.1:g.125956_125959del , LRG_713:g.125956_125959del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.748-18_748-15del | ENSP00000495610.2:n.748-18_748-15del | |
| ENST00000686220.1:c.*44-18_*44-15del | ENSP00000509904.1:n.*44-18_*44-15del | |
| ENST00000687696.1:n.126-18_126-15del | ||
| ENST00000687927.1:n.1062-18_1062-15del | ||
| ENST00000688400.1:c.284-18_284-15del | ENSP00000510490.1:n.284-18_284-15del | |
| ENST00000689156.1:c.418-18_418-15del | ENSP00000509143.1:n.418-18_418-15del | |
| ENST00000691093.1:c.416-18_416-15del | ENSP00000509465.1:n.416-18_416-15del | |
| ENST00000691703.1:c.632-18_632-15del | ENSP00000508496.1:n.632-18_632-15del | |
| ENST00000692664.1:c.446-18_446-15del | ENSP00000508656.1:n.446-18_446-15del | |
| ENST00000693329.1:c.*70-18_*70-15del | ENSP00000508490.1:n.*70-18_*70-15del | |
| ENST00000453231.6:c.617-18_617-15del | ENSP00000392197.2:n.617-18_617-15del | |
| ENST00000535845.6:c.515-18_515-15del | ENSP00000437567.1:n.515-18_515-15del | |
| ENST00000538924.7:c.784-18_784-15del MANE Select | ENSP00000438346.3:n.784-18_784-15del | |
| ENST00000541910.6:c.361-18_361-15del | ENSP00000442681.1:n.361-18_361-15del | |
| ENST00000642243.1:c.892-18_892-15del | ENSP00000494960.1:n.892-18_892-15del | |
| ENST00000643817.1:c.706-18_706-15del | ENSP00000495610.1:n.706-18_706-15del | |
| ENST00000644644.1:c.793-18_793-15del | ENSP00000494305.1:n.793-18_793-15del | |
| ENST00000646181.1:n.469-18_469-15del | ||
| ENST00000165698.9:c.596-18_596-15del | ENSP00000165698.5:n.596-18_596-15del | |
| ENST00000535845.5:c.515-18_515-15del | ENSP00000437567.1:n.515-18_515-15del | |
| ENST00000538924.5:c.617-18_617-15del | ENSP00000438346.1:n.617-18_617-15del | |
| ENST00000541910.5:c.361-18_361-15del | ENSP00000442681.1:n.361-18_361-15del | |
| NM_001164730.1:c.617-18_617-15del , LRG_713t1:c.617-18_617-15del | NP_001158202.1:n.617-18_617-15del | |
| NM_001164731.1:c.515-18_515-15del | NP_001158203.1:n.515-18_515-15del | |
| NM_001164732.1:c.361-18_361-15del | NP_001158204.1:n.361-18_361-15del | |
| NM_022912.2:c.596-18_596-15del , LRG_713t2:c.596-18_596-15del | NP_075063.1:n.596-18_596-15del | |
| XM_005264502.1:c.784-18_784-15del | XP_005264559.1:n.784-18_784-15del | |
| XM_005264504.1:c.670-18_670-15del | XP_005264561.1:n.670-18_670-15del | |
| XM_011533043.1:c.769-18_769-15del | XP_011531345.1:n.769-18_769-15del | |
| XM_011533044.1:c.766-18_766-15del | XP_011531346.1:n.766-18_766-15del | |
| XM_011533045.1:c.760-18_760-15del | XP_011531347.1:n.760-18_760-15del | |
| XM_011533046.1:c.653-18_653-15del | XP_011531348.1:n.653-18_653-15del | |
| XM_005264502.2:c.784-18_784-15del | XP_005264559.1:n.784-18_784-15del | |
| XM_011533045.2:c.760-18_760-15del | XP_011531347.1:n.760-18_760-15del | |
| XM_017004725.1:c.769-18_769-15del | XP_016860214.1:n.769-18_769-15del | |
| XM_017004726.1:c.653-18_653-15del | XP_016860215.1:n.653-18_653-15del | |
| XM_017004727.1:c.617-18_617-15del | XP_016860216.1:n.617-18_617-15del | |
| NM_001164730.2:c.617-18_617-15del | NP_001158202.1:n.617-18_617-15del | |
| NM_001164731.2:c.515-18_515-15del | NP_001158203.1:n.515-18_515-15del | |
| NM_001164732.2:c.361-18_361-15del | NP_001158204.1:n.361-18_361-15del | |
| NM_001371279.1:c.784-18_784-15del MANE Select | NP_001358208.1:n.784-18_784-15del | |
| NM_001371280.1:c.418-18_418-15del | NP_001358209.1:n.418-18_418-15del | |
| NM_022912.3:c.596-18_596-15del | NP_075063.1:n.596-18_596-15del |