Linked Data
ClinVar Variation Id:
417999
dbSNP Id:
rs763595926
ExAC:
20:43255088 ATCAC / A
gnomAD v2:
20-43255088-ATCAC-A
gnomAD v4:
20-44626447-ATCAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44626455_44626458del , CM000682.2:g.44626455_44626458del | GRCh38 |
| NC_000020.10:g.43255096_43255099del , CM000682.1:g.43255096_43255099del | GRCh37 |
| NC_000020.9:g.42688510_42688513del | NCBI36 |
| NG_007385.1:g.30285_30288del , LRG_16:g.30285_30288del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.453+5_453+8del | ||
| ENST00000536076.2:c.209+5_209+8del | ||
| ENST00000536532.6:c.362+5_362+8del | ||
| ENST00000537820.2:c.362+5_362+8del | ||
| ENST00000539235.6:c.218+2596_218+2599del | ENSP00000446464.1:n.218+2596_218+2599del | |
| ENST00000695889.1:c.218+2596_218+2599del | ENSP00000512240.1:n.218+2596_218+2599del | |
| ENST00000695890.1:n.2165+5_2165+8del | ||
| ENST00000695891.1:c.218+2596_218+2599del | ENSP00000512241.1:n.218+2596_218+2599del | |
| ENST00000695927.1:c.440+5_440+8del | ||
| ENST00000695949.1:c.359+5_359+8del | ||
| ENST00000695957.1:c.362+5_362+8del | ||
| ENST00000695991.1:c.216+2598_216+2601del | ENSP00000512314.1:n.216+2598_216+2601del | |
| ENST00000695992.1:c.362+5_362+8del | ||
| ENST00000695993.1:c.362+5_362+8del | ||
| ENST00000695994.1:c.362+5_362+8del | ||
| ENST00000695995.1:c.216+2598_216+2601del | ENSP00000512318.1:n.216+2598_216+2601del | |
| ENST00000695996.1:n.433+5_433+8del | ||
| ENST00000695997.1:n.433+5_433+8del | ||
| ENST00000696003.1:n.454+5_454+8del | ||
| ENST00000696004.1:n.454+5_454+8del | ||
| ENST00000696006.1:c.362+5_362+8del | ||
| ENST00000696007.1:c.329+5_329+8del | ||
| ENST00000696009.1:n.473+5_473+8del | ||
| ENST00000696017.1:c.359+5_359+8del | ||
| ENST00000696034.1:c.362+5_362+8del | ||
| ENST00000696035.1:n.472+5_472+8del | ||
| ENST00000696036.1:n.1052+5_1052+8del | ||
| ENST00000696037.1:n.2039+5_2039+8del | ||
| ENST00000696038.1:c.*108+5_*108+8del | ||
| ENST00000696039.1:n.650+5_650+8del | ||
| ENST00000696058.1:c.362+5_362+8del | ||
| ENST00000696059.1:c.*307+5_*307+8del | ||
| ENST00000696060.1:c.362+5_362+8del | ||
| ENST00000696061.1:c.359+5_359+8del | ||
| ENST00000696062.1:c.425+5_425+8del | ||
| ENST00000696063.1:c.437+5_437+8del | ||
| ENST00000696064.1:c.209+5_209+8del | ||
| ENST00000696065.1:c.65+2596_65+2599del | ENSP00000512368.1:n.65+2596_65+2599del | |
| ENST00000696075.1:c.*332+5_*332+8del | ||
| ENST00000696076.1:c.362+5_362+8del | ||
| ENST00000696077.1:c.359+5_359+8del | ||
| ENST00000696078.1:c.362+5_362+8del | ||
| ENST00000696079.1:c.362+5_362+8del | ||
| ENST00000696080.1:c.362+5_362+8del | ||
| ENST00000696082.1:c.440+5_440+8del | ||
| ENST00000696084.1:n.463+5_463+8del | ||
| ENST00000696104.1:c.362+5_362+8del | ||
| ENST00000696105.1:c.362+5_362+8del | ||
| ENST00000372874.9:c.362+5_362+8del | ||
| ENST00000372874.8:c.362+5_362+8del | ||
| ENST00000464097.5:n.36+5_36+8del | ||
| ENST00000492931.5:n.446+5_446+8del | ||
| ENST00000536532.5:c.362+5_362+8del | ||
| ENST00000537820.1:c.362+5_362+8del | ||
| ENST00000539235.5:c.218+2596_218+2599del | ENSP00000446464.1:n.218+2596_218+2599del | |
| ENST00000545776.5:n.421_424del | ||
| NM_000022.2:c.362+5_362+8del , LRG_16t1:c.362+5_362+8del | ||
| XM_005260236.2:c.362+5_362+8del | ||
| XM_011528478.1:c.73+5_73+8del | ||
| XM_011528479.1:c.73+5_73+8del | ||
| XR_244129.1:n.416+5_416+8del | ||
| NM_000022.3:c.362+5_362+8del | ||
| NM_001322050.1:c.73+5_73+8del | ||
| NM_001322051.1:c.362+5_362+8del | ||
| NR_136160.1:n.513+5_513+8del | ||
| NM_000022.4:c.362+5_362+8del | ||
| NM_001322050.2:c.73+5_73+8del | ||
| NM_001322051.2:c.362+5_362+8del | ||
| NR_136160.2:n.454+5_454+8del |