Linked Data
ClinVar Variation Id:
411675
dbSNP Id:
rs760818649
ExAC:
16:89598370 G / GC
gnomAD v2:
16-89598370-G-GC
gnomAD v3:
16-89531962-G-GC
gnomAD v4:
16-89531962-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89531969dup , CM000678.2:g.89531969dup | GRCh38 |
| NC_000016.9:g.89598377dup , CM000678.1:g.89598377dup | GRCh37 |
| NC_000016.8:g.88125878dup | NCBI36 |
| NG_008082.1:g.28573dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1032dup | ENSP00000268704.3:p.Gly345ArgfsTer? | |
| ENST00000561945.2:n.198dup | ||
| ENST00000564409.2:c.1109dup | ENSP00000495297.1:n.1109dup | |
| ENST00000566682.2:c.66dup | ENSP00000461979.2:p.Gly23ArgfsTer? | |
| ENST00000642334.1:c.926dup | ||
| ENST00000642371.1:c.1132dup | ||
| ENST00000642427.1:n.453dup | ||
| ENST00000642436.1:n.389-8975dup | ||
| ENST00000643105.1:c.973dup | ||
| ENST00000643178.1:n.598dup | ||
| ENST00000643307.1:c.1053dup | ENSP00000495673.1:p.Gly352ArgfsTer? | |
| ENST00000643345.1:c.*577dup | ENSP00000493982.1:n.*577dup | |
| ENST00000643370.1:c.325-494dup | ENSP00000494895.1:n.325-494dup | |
| ENST00000643496.1:n.870dup | ||
| ENST00000643649.1:c.1053dup | ENSP00000494806.1:p.Gly352ArgfsTer? | |
| ENST00000643668.1:c.*1347dup | ENSP00000494903.1:n.*1347dup | |
| ENST00000643724.1:c.*497+1161dup | ENSP00000496335.1:n.*497+1161dup | |
| ENST00000643954.1:c.791dup | ||
| ENST00000644171.1:n.1027dup | ||
| ENST00000644210.1:c.1053dup | ENSP00000495675.1:p.Gly352ArgfsTer? | |
| ENST00000644225.1:n.1070dup | ||
| ENST00000644498.1:c.1032dup | ENSP00000496244.1:p.Gly345ArgfsTer? | |
| ENST00000644671.1:c.710dup | ||
| ENST00000644748.1:n.2484dup | ||
| ENST00000644751.1:c.455dup | ||
| ENST00000644781.1:c.1053dup | ENSP00000495473.1:p.Gly352ArgfsTer? | |
| ENST00000644901.1:c.*1006dup | ENSP00000493797.1:n.*1006dup | |
| ENST00000645042.1:c.1053dup | ENSP00000493908.1:p.Gly352ArgfsTer? | |
| ENST00000645063.1:c.1053dup | ENSP00000493590.1:p.Gly352ArgfsTer? | |
| ENST00000645354.1:c.1813dup | ||
| ENST00000645533.1:c.*182dup | ENSP00000495690.1:n.*182dup | |
| ENST00000645818.2:c.1053dup MANE Select | ENSP00000495795.2:p.Gly352ArgfsTer? | |
| ENST00000645886.1:c.280dup | ||
| ENST00000645897.1:c.987+1161dup | ENSP00000495293.1:n.987+1161dup | |
| ENST00000645977.1:n.2171dup | ||
| ENST00000646263.1:c.1053dup | ENSP00000494119.1:p.Gly352ArgfsTer? | |
| ENST00000646303.1:c.921dup | ENSP00000494160.1:p.Gly308ArgfsTer? | |
| ENST00000646399.1:c.736dup | ||
| ENST00000646445.1:c.183-12679dup | ||
| ENST00000646454.1:n.710+1012dup | ||
| ENST00000646531.1:c.1053dup | ENSP00000495185.1:p.Gly352ArgfsTer? | |
| ENST00000646589.1:c.*181dup | ENSP00000494739.1:n.*181dup | |
| ENST00000646716.1:c.377-12679dup | ENSP00000495593.1:n.377-12679dup | |
| ENST00000646826.1:c.1053dup | ENSP00000495123.1:p.Gly352ArgfsTer? | |
| ENST00000646930.1:c.1053dup | ENSP00000495219.1:p.Gly352ArgfsTer? | |
| ENST00000646958.1:n.2098dup | ||
| ENST00000647032.1:c.668dup | ||
| ENST00000647079.1:c.645dup | ENSP00000495967.1:p.Gly216ArgfsTer? | |
| ENST00000647227.1:c.816dup | ||
| ENST00000268704.6:c.1053dup | ENSP00000268704.2:p.Gly352ArgfsTer? | |
| ENST00000341316.6:c.1053dup | ENSP00000341157.2:p.Gly352ArgfsTer? | |
| ENST00000561945.1:n.97dup | ||
| ENST00000564409.1:n.512dup | ||
| ENST00000620811.4:c.-524dup | ENSP00000478030.1:n.-524dup | |
| NM_003119.3:c.1053dup | NP_003110.1:p.Gly352ArgfsTer? | |
| NM_199367.2:c.1053dup | NP_955399.1:p.Gly352ArgfsTer? | |
| XM_005256321.3:c.1053dup | XP_005256378.1:p.Gly352ArgfsTer? | |
| XM_006721264.2:c.1053dup | XP_006721327.1:p.Gly352ArgfsTer? | |
| XM_011523306.1:c.1053dup | XP_011521608.1:p.Gly352ArgfsTer? | |
| XM_011523307.1:c.1053dup | XP_011521609.1:p.Gly352ArgfsTer? | |
| NM_001363850.1:c.1053dup | NP_001350779.1:p.Gly352ArgfsTer? | |
| XM_005256321.4:c.1053dup | XP_005256378.1:p.Gly352ArgfsTer? | |
| XM_006721264.4:c.1053dup | XP_006721327.1:p.Gly352ArgfsTer? | |
| XM_017023597.1:c.1053dup | XP_016879086.1:p.Gly352ArgfsTer? | |
| XM_017023598.1:c.1053dup | XP_016879087.1:p.Gly352ArgfsTer? | |
| XR_001751971.2:n.1092dup | ||
| XR_001751972.2:n.1092dup | ||
| NM_003119.4:c.1053dup MANE Select | NP_003110.1:p.Gly352ArgfsTer? | |
| NM_199367.3:c.1053dup | NP_955399.1:p.Gly352ArgfsTer? |