Linked Data
ClinVar Variation Id:
225491
dbSNP Id:
rs529176585
ExAC:
16:66547624 TCTTA / T
gnomAD v2:
16-66547624-TCTTA-T
gnomAD v3:
16-66513721-TCTTA-T
gnomAD v4:
16-66513721-TCTTA-T
PubMed:
PMID:20123860
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66513727_66513730del , CM000678.2:g.66513727_66513730del | GRCh38 |
| NC_000016.9:g.66547630_66547633del , CM000678.1:g.66547630_66547633del | GRCh37 |
| NC_000016.8:g.65105131_65105134del | NCBI36 |
| NG_016862.1:g.41688_41691del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.531+6_531+9del | ENSP00000299697.9:n.531+6_531+9del | |
| ENST00000417693.8:c.645+6_645+9del | ENSP00000407469.5:n.645+6_645+9del | |
| ENST00000451102.7:c.606+6_606+9del | ENSP00000414334.4:n.606+6_606+9del | |
| ENST00000527284.6:c.563-1659_563-1656del | ||
| ENST00000527800.6:c.408+6_408+9del | ENSP00000433770.1:n.408+6_408+9del | |
| ENST00000544898.6:c.699+6_699+9del MANE Select | ENSP00000440898.2:n.699+6_699+9del | |
| ENST00000567357.6:c.*557+6_*557+9del | ENSP00000457959.2:n.*557+6_*557+9del | |
| ENST00000569718.6:c.437+6_437+9del | ENSP00000464313.2:n.437+6_437+9del | |
| ENST00000620035.5:c.455+6_455+9del | ENSP00000483833.2:n.455+6_455+9del | |
| ENST00000677296.1:n.81+6_81+9del | ||
| ENST00000677420.1:c.408+6_408+9del | ENSP00000504648.1:n.408+6_408+9del | |
| ENST00000677555.1:c.408+6_408+9del | ENSP00000503331.1:n.408+6_408+9del | |
| ENST00000677715.1:c.408+6_408+9del | ENSP00000502950.1:n.408+6_408+9del | |
| ENST00000677753.1:n.81+6_81+9del | ||
| ENST00000678015.1:c.408+6_408+9del | ENSP00000502959.1:n.408+6_408+9del | |
| ENST00000678190.1:c.81+6_81+9del | ENSP00000503824.1:n.81+6_81+9del | |
| ENST00000678282.1:n.81+6_81+9del | ||
| ENST00000678297.1:c.408+6_408+9del | ENSP00000503472.1:n.408+6_408+9del | |
| ENST00000299697.11:c.699+6_699+9del | ENSP00000299697.8:n.699+6_699+9del | |
| ENST00000417693.7:c.771+6_771+9del | ENSP00000407469.4:n.771+6_771+9del | |
| ENST00000451102.6:c.825+6_825+9del | ENSP00000414334.3:n.825+6_825+9del | |
| ENST00000525974.5:c.408+6_408+9del | ENSP00000434594.1:n.408+6_408+9del | |
| ENST00000527284.5:c.606+6_606+9del | ENSP00000435312.1:n.606+6_606+9del | |
| ENST00000527800.5:c.408+6_408+9del | ENSP00000433770.1:n.408+6_408+9del | |
| ENST00000544898.5:c.699+6_699+9del | ENSP00000440898.2:n.699+6_699+9del | |
| ENST00000545043.6:c.624+6_624+9del | ENSP00000438143.2:n.624+6_624+9del | |
| ENST00000561527.5:n.258+6_258+9del | ||
| ENST00000561728.1:c.148+6_148+9del | ||
| ENST00000561905.2:c.53+6_53+9del | ||
| ENST00000562552.5:n.515+6_515+9del | ||
| ENST00000563099.5:n.226+6_226+9del | ||
| ENST00000563369.6:c.408+6_408+9del | ENSP00000463560.1:n.408+6_408+9del | |
| ENST00000564792.1:n.354+6_354+9del | ||
| ENST00000564917.5:c.750+6_750+9del | ENSP00000455187.1:n.750+6_750+9del | |
| ENST00000567357.5:c.*557+6_*557+9del | ENSP00000457959.1:n.*557+6_*557+9del | |
| ENST00000569718.5:c.424+6_424+9del | ||
| ENST00000620035.4:c.645+6_645+9del | ENSP00000483833.1:n.645+6_645+9del | |
| NM_001172643.1:c.606+6_606+9del | NP_001166114.1:n.606+6_606+9del | |
| NM_001172644.1:c.624+6_624+9del | NP_001166115.1:n.624+6_624+9del | |
| NM_001172645.1:c.645+6_645+9del | NP_001166116.1:n.645+6_645+9del | |
| NM_001271934.1:c.552+6_552+9del | NP_001258863.1:n.552+6_552+9del | |
| NM_001271935.1:c.437+6_437+9del | NP_001258864.1:n.437+6_437+9del | |
| NM_001272050.1:c.408+6_408+9del | NP_001258979.1:n.408+6_408+9del | |
| NM_004614.4:c.699+6_699+9del | NP_004605.4:n.699+6_699+9del | |
| NR_073520.1:n.1978+6_1978+9del | ||
| NM_001172644.2:c.624+6_624+9del | NP_001166115.1:n.624+6_624+9del | |
| NM_001271934.2:c.552+6_552+9del | NP_001258863.1:n.552+6_552+9del | |
| NM_001272050.2:c.408+6_408+9del | NP_001258979.1:n.408+6_408+9del | |
| NM_004614.5:c.699+6_699+9del MANE Select | NP_004605.4:n.699+6_699+9del | |
| NR_073520.2:n.1688+6_1688+9del | ||
| NM_001172645.2:c.645+6_645+9del | NP_001166116.1:n.645+6_645+9del |