Linked Data
ClinVar Variation Id:
495793
ClinVar RCV Id:
RCV000587877
dbSNP Id:
rs1555935486
PubMed:
PMID:21914562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359530_19359613dup , CM000685.2:g.19359530_19359613dup | GRCh38 |
| NC_000023.10:g.19377648_19377731dup , CM000685.1:g.19377648_19377731dup | GRCh37 |
| NC_000023.9:g.19287569_19287652dup | NCBI36 |
| NG_016781.1:g.20638_20721dup | |
| NG_021184.1:g.160649_160732dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1071_1154dup | ENSP00000348062.6:p.Arg385_Gly386insGlnPh... | |
| ENST00000379805.4:c.*742_*825dup | ENSP00000369133.3:n.*742_*825dup | |
| ENST00000417819.6:c.1134_1217dup | ENSP00000404616.2:p.Arg406_Gly407insGlnPh... | |
| ENST00000423505.6:c.1164_1247dup | ENSP00000406473.2:p.Arg416_Gly417insGlnPh... | |
| ENST00000481733.2:n.845_928dup | ||
| ENST00000696704.1:c.*382_*465dup | ENSP00000512823.1:n.*382_*465dup | |
| ENST00000696705.1:c.*505_*588dup | ENSP00000512824.1:n.*505_*588dup | |
| ENST00000422285.7:c.1050_1133dup MANE Select | ENSP00000394382.2:p.Arg378_Gly379insGlnPh... | |
| ENST00000379804.1:c.207_290dup | ENSP00000369132.1:p.Arg97_Gly98insGlnPheA... | |
| ENST00000379806.9:c.1164_1247dup | ENSP00000369134.5:p.Arg416_Gly417insGlnPh... | |
| ENST00000422285.6:c.1050_1133dup | ENSP00000394382.2:p.Arg378_Gly379insGlnPh... | |
| ENST00000478795.1:n.489_572dup | ||
| ENST00000540249.5:c.957_1040dup | ENSP00000440761.1:p.Arg347_Gly348insGlnPh... | |
| ENST00000545074.5:c.1071_1154dup | ENSP00000438550.1:p.Arg385_Gly386insGlnPh... | |
| NM_000284.3:c.1050_1133dup | NP_000275.1:p.Arg378_Gly379insGlnPheAlaTh... | |
| NM_001173454.1:c.1164_1247dup | NP_001166925.1:p.Arg416_Gly417insGlnPheAl... | |
| NM_001173455.1:c.1071_1154dup | NP_001166926.1:p.Arg385_Gly386insGlnPheAl... | |
| NM_001173456.1:c.957_1040dup | NP_001166927.1:p.Arg347_Gly348insGlnPheAl... | |
| XM_011545531.1:c.1185_1268dup | XP_011543833.1:p.Arg423_Gly424insGlnPheAl... | |
| XM_011545532.1:c.1092_1175dup | XP_011543834.1:p.Arg392_Gly393insGlnPheAl... | |
| XM_017029574.2:c.1071_1154dup | XP_016885063.1:p.Arg385_Gly386insGlnPheAl... | |
| NM_000284.4:c.1050_1133dup MANE Select | NP_000275.1:p.Arg378_Gly379insGlnPheAlaTh... | |
| NM_001173454.2:c.1164_1247dup | NP_001166925.1:p.Arg416_Gly417insGlnPheAl... | |
| NM_001173455.2:c.1071_1154dup | NP_001166926.1:p.Arg385_Gly386insGlnPheAl... | |
| NM_001173456.2:c.957_1040dup | NP_001166927.1:p.Arg347_Gly348insGlnPheAl... |