Linked Data
ClinVar Variation Id:
56783
dbSNP Id:
rs386834202
ExAC:
8:94777801 CAG / C
gnomAD v2:
8-94777801-CAG-C
gnomAD v3:
8-93765573-CAG-C
gnomAD v4:
8-93765573-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93765574_93765575del , CM000670.2:g.93765574_93765575del | GRCh38 |
| NC_000008.10:g.94777802_94777803del , CM000670.1:g.94777802_94777803del | GRCh37 |
| NC_000008.9:g.94846978_94846979del | NCBI36 |
| NG_009190.1:g.15731_15732del , LRG_688:g.15731_15732del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.579_580del | ENSP00000314488.4:p.Gly195IlefsTer13 | |
| ENST00000409623.8:c.579_580del | ENSP00000386966.4:p.Gly195IlefsTer13 | |
| ENST00000452276.6:c.579_580del | ENSP00000388671.2:p.Gly195IlefsTer13 | |
| ENST00000453906.6:c.406+6998_406+6999del | ENSP00000403035.2:n.406+6998_406+6999del | |
| ENST00000520680.2:c.579_580del | ENSP00000428785.2:p.Gly195IlefsTer13 | |
| ENST00000521065.2:c.*296_*297del | ENSP00000427947.2:n.*296_*297del | |
| ENST00000521517.6:c.579_580del | ENSP00000430740.2:p.Gly195IlefsTer13 | |
| ENST00000681998.1:c.509_510del | ENSP00000506773.1:p.Gln170ArgfsTer? | |
| ENST00000682036.1:c.406+6998_406+6999del | ENSP00000508390.1:n.406+6998_406+6999del | |
| ENST00000682577.1:c.509_510del | ENSP00000506963.1:p.Gln170ArgfsTer? | |
| ENST00000682624.1:c.*153_*154del | ENSP00000508343.1:n.*153_*154del | |
| ENST00000682700.1:c.579_580del | ENSP00000507627.1:p.Gly195IlefsTer13 | |
| ENST00000682804.1:n.402_403del | ||
| ENST00000682837.1:c.406+6998_406+6999del | ENSP00000507920.1:n.406+6998_406+6999del | |
| ENST00000682935.1:n.2139_2140del | ||
| ENST00000682984.1:c.313-7015_313-7014del | ENSP00000507209.1:n.313-7015_313-7014del | |
| ENST00000683078.1:c.406+6998_406+6999del | ENSP00000506796.1:n.406+6998_406+6999del | |
| ENST00000683223.1:c.420_421del | ENSP00000507685.1:n.420_421del | |
| ENST00000683238.1:n.1960_1961del | ||
| ENST00000683249.1:n.2160_2161del | ||
| ENST00000683336.1:c.509_510del | ENSP00000507695.1:p.Gln170ArgfsTer? | |
| ENST00000683362.1:c.313-7015_313-7014del | ENSP00000506985.1:n.313-7015_313-7014del | |
| ENST00000683850.1:n.502_503del | ||
| ENST00000683919.1:c.509_510del | ENSP00000507617.1:p.Gln170ArgfsTer? | |
| ENST00000683953.1:c.490_491del | ENSP00000508375.1:n.490_491del | |
| ENST00000684023.1:c.713_714del | ENSP00000507461.1:n.713_714del | |
| ENST00000684064.1:c.270_271del | ENSP00000508192.1:p.Gly92IlefsTer13 | |
| ENST00000684089.1:n.2129_2130del | ||
| ENST00000684149.1:c.509_510del | ENSP00000507943.1:p.Gln170ArgfsTer? | |
| ENST00000684416.1:n.538_539del | ||
| ENST00000684540.1:c.509_510del | ENSP00000507987.1:p.Gln170ArgfsTer? | |
| ENST00000453321.8:c.579_580del MANE Select | ENSP00000389998.3:p.Gly195IlefsTer13 | |
| ENST00000323130.7:c.549_550del | ENSP00000314488.3:p.Gly185IlefsTer13 | |
| ENST00000409623.7:c.336_337del | ENSP00000386966.3:p.Gly114IlefsTer13 | |
| ENST00000452276.5:c.270_271del | ENSP00000388671.1:p.Gly92IlefsTer13 | |
| ENST00000453321.7:c.579_580del | ENSP00000389998.3:p.Gly195IlefsTer13 | |
| ENST00000453906.5:c.406+6998_406+6999del | ENSP00000403035.1:n.406+6998_406+6999del | |
| ENST00000455946.5:c.*251_*252del | ENSP00000416339.1:n.*251_*252del | |
| ENST00000474944.5:n.426+6998_426+6999del | ||
| ENST00000496213.5:n.44_45del | ||
| ENST00000518319.5:c.99_100del | ENSP00000430289.1:p.Gly35IlefsTer? | |
| ENST00000521065.1:c.485_486del | ||
| ENST00000521517.5:c.501_502del | ||
| NM_001142301.1:c.336_337del , LRG_688t2:c.336_337del | NP_001135773.1:p.Gly114IlefsTer13 | |
| NM_153704.5:c.579_580del , LRG_688t1:c.579_580del | NP_714915.3:p.Gly195IlefsTer13 | |
| NR_024522.1:n.650_651del | ||
| XM_006716686.2:c.276_277del | XP_006716749.1:p.Gly94IlefsTer13 | |
| XM_011517363.1:c.406+6998_406+6999del | XP_011515665.1:n.406+6998_406+6999del | |
| XR_428387.1:n.637_638del | ||
| XR_928360.1:n.637_638del | ||
| XR_928361.1:n.637_638del | ||
| XR_928362.1:n.637_638del | ||
| XM_006716686.4:c.276_277del | XP_006716749.1:p.Gly94IlefsTer13 | |
| XM_011517363.3:c.406+6998_406+6999del | XP_011515665.1:n.406+6998_406+6999del | |
| XM_024447326.1:c.-4+6998_-4+6999del | XP_024303094.1:n.-4+6998_-4+6999del | |
| XR_001745619.2:n.620_621del | ||
| XR_428387.2:n.620_621del | ||
| XR_928360.3:n.620_621del | ||
| XR_928362.3:n.620_621del | ||
| NM_153704.6:c.579_580del MANE Select | NP_714915.3:p.Gly195IlefsTer13 | |
| NR_024522.2:n.600_601del |