Linked Data
ClinVar Variation Id:
372883
ClinVar RCV Id:
RCV000413181
dbSNP Id:
rs1057518046
gnomAD v4:
8-143818205-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143818211dup , CM000670.2:g.143818211dup | GRCh38 |
| NC_000008.9:g.144972369dup | NCBI36 |
| NG_030583.1:g.2174dup | |
| NG_033879.1:g.16181dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524570.6:n.1288dup | ||
| ENST00000526151.6:n.2645dup | ||
| ENST00000526459.6:c.536dup | ENSP00000432610.2:p.Arg180GlnfsTer23 | |
| ENST00000527744.6:c.587dup | ENSP00000436131.2:p.Arg197GlnfsTer23 | |
| ENST00000531951.6:c.461dup | ENSP00000515500.1:p.Arg155GlnfsTer23 | |
| ENST00000532127.6:c.*435dup | ENSP00000515484.1:n.*435dup | |
| ENST00000533162.2:c.701dup | ENSP00000433403.2:p.Arg235GlnfsTer23 | |
| ENST00000533362.2:c.665dup | ENSP00000515502.1:p.Arg223GlnfsTer23 | |
| ENST00000703744.1:n.1301dup | ||
| ENST00000703803.1:n.738dup | ||
| ENST00000703846.1:c.461dup | ENSP00000515498.1:p.Arg155GlnfsTer23 | |
| ENST00000703847.1:c.701dup | ENSP00000515499.1:p.Arg235GlnfsTer23 | |
| ENST00000703848.1:n.621dup | ||
| ENST00000703849.1:c.461dup | ENSP00000515501.1:p.Arg155GlnfsTer23 | |
| ENST00000703850.1:c.665dup | ENSP00000515503.1:p.Arg223GlnfsTer23 | |
| ENST00000703851.1:n.510dup | ||
| ENST00000703852.1:c.*513dup | ENSP00000515504.1:n.*513dup | |
| ENST00000703853.1:n.504dup | ||
| ENST00000703866.1:c.590dup | ENSP00000515511.1:p.Arg198GlnfsTer23 | |
| ENST00000526683.6:c.590dup MANE Select | ENSP00000434359.1:p.Arg198GlnfsTer23 | |
| ENST00000313352.11:c.410dup | ENSP00000322016.7:p.Arg138GlnfsTer23 | |
| ENST00000349157.10:c.539dup | ENSP00000322036.7:p.Arg181GlnfsTer23 | |
| ENST00000453551.6:c.461dup | ENSP00000402953.2:p.Arg155GlnfsTer23 | |
| ENST00000456095.6:c.503dup | ENSP00000395417.2:p.Arg169GlnfsTer23 | |
| ENST00000524570.5:n.1276dup | ||
| ENST00000526459.5:c.536dup | ENSP00000432610.1:p.Arg180GlnfsTer23 | |
| ENST00000526683.5:c.590dup | ENSP00000434359.1:p.Arg198GlnfsTer23 | |
| ENST00000527197.5:c.452dup | ENSP00000431960.1:p.Arg152GlnfsTer23 | |
| ENST00000527744.5:c.583dup | ||
| ENST00000528320.5:n.602dup | ||
| ENST00000528999.5:n.321dup | ||
| ENST00000529693.1:n.671dup | ||
| ENST00000529999.5:c.650dup | ENSP00000434863.1:p.Arg218GlnfsTer23 | |
| ENST00000531897.5:c.650dup | ENSP00000437309.1:p.Arg218GlnfsTer23 | |
| ENST00000531951.5:n.750dup | ||
| ENST00000532884.1:c.184dup | ||
| NM_001136033.2:c.461dup | NP_001129505.1:p.Arg155GlnfsTer23 | |
| NM_001271096.1:c.536dup | NP_001258025.1:p.Arg180GlnfsTer23 | |
| NM_001271097.1:c.452dup | NP_001258026.1:p.Arg152GlnfsTer23 | |
| NM_001271098.1:c.587dup | NP_001258027.1:p.Arg197GlnfsTer23 | |
| NM_001271099.1:c.503dup | NP_001258028.1:p.Arg169GlnfsTer23 | |
| NM_001271100.1:c.410dup | NP_001258029.1:p.Arg138GlnfsTer23 | |
| NM_014281.4:c.539dup | NP_055096.2:p.Arg181GlnfsTer23 | |
| NM_078480.2:c.590dup | NP_510965.1:p.Arg198GlnfsTer23 | |
| XM_011516929.1:c.701dup | XP_011515231.1:p.Arg235GlnfsTer23 | |
| XM_011516930.1:c.650dup | XP_011515232.1:p.Arg218GlnfsTer23 | |
| NM_001362895.1:c.701dup | NP_001349824.1:p.Arg235GlnfsTer23 | |
| NM_001362896.1:c.701dup | NP_001349825.1:p.Arg235GlnfsTer23 | |
| NM_001362897.1:c.650dup | NP_001349826.1:p.Arg218GlnfsTer23 | |
| XM_017013234.1:c.701dup | XP_016868723.1:p.Arg235GlnfsTer23 | |
| XM_017013235.1:c.665dup | XP_016868724.1:p.Arg223GlnfsTer23 | |
| XM_017013236.1:c.650dup | XP_016868725.1:p.Arg218GlnfsTer23 | |
| XM_017013239.1:c.461dup | XP_016868728.1:p.Arg155GlnfsTer23 | |
| XM_017013240.1:c.410dup | XP_016868729.1:p.Arg138GlnfsTer23 | |
| NM_001136033.3:c.461dup | NP_001129505.1:p.Arg155GlnfsTer23 | |
| NM_001271096.2:c.536dup | NP_001258025.1:p.Arg180GlnfsTer23 | |
| NM_001271097.2:c.452dup | NP_001258026.1:p.Arg152GlnfsTer23 | |
| NM_001271098.2:c.587dup | NP_001258027.1:p.Arg197GlnfsTer23 | |
| NM_001271099.2:c.503dup | NP_001258028.1:p.Arg169GlnfsTer23 | |
| NM_001271100.2:c.410dup | NP_001258029.1:p.Arg138GlnfsTer23 | |
| NM_001362895.2:c.701dup | NP_001349824.1:p.Arg235GlnfsTer23 | |
| NM_001362896.2:c.701dup | NP_001349825.1:p.Arg235GlnfsTer23 | |
| NM_001362897.2:c.650dup | NP_001349826.1:p.Arg218GlnfsTer23 | |
| NM_014281.5:c.539dup | NP_055096.2:p.Arg181GlnfsTer23 | |
| NM_078480.3:c.590dup MANE Select | NP_510965.1:p.Arg198GlnfsTer23 |