Linked Data
ClinVar Variation Id:
214949
ClinVar RCV Id:
RCV000199933
dbSNP Id:
rs863224157
MyVariant Identifiers:
chrX:g.19377119_19377132dupCTTGCCAGTGTGGA (hg19)
chrX:g.19359001_19359014dupCTTGCCAGTGTGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359001_19359014dup , CM000685.2:g.19359001_19359014dup | GRCh38 |
| NC_000023.10:g.19377119_19377132dup , CM000685.1:g.19377119_19377132dup | GRCh37 |
| NC_000023.9:g.19287040_19287053dup | NCBI36 |
| NG_016781.1:g.20109_20122dup | |
| NG_021184.1:g.161248_161261dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1006_1019dup | ENSP00000348062.6:p.Glu340AspfsTer8 | |
| ENST00000379805.4:c.*677_*690dup | ENSP00000369133.3:n.*677_*690dup | |
| ENST00000417819.6:c.1069_1082dup | ENSP00000404616.2:p.Glu361AspfsTer8 | |
| ENST00000423505.6:c.1099_1112dup | ENSP00000406473.2:p.Glu371AspfsTer8 | |
| ENST00000481733.2:n.780_793dup | ||
| ENST00000696704.1:c.*317_*330dup | ENSP00000512823.1:n.*317_*330dup | |
| ENST00000696705.1:c.*440_*453dup | ENSP00000512824.1:n.*440_*453dup | |
| ENST00000422285.7:c.985_998dup MANE Select | ENSP00000394382.2:p.Glu333AspfsTer8 | |
| ENST00000379804.1:c.142_155dup | ENSP00000369132.1:p.Glu52AspfsTer8 | |
| ENST00000379806.9:c.1099_1112dup | ENSP00000369134.5:p.Glu371AspfsTer8 | |
| ENST00000422285.6:c.985_998dup | ENSP00000394382.2:p.Glu333AspfsTer8 | |
| ENST00000478795.1:n.424_437dup | ||
| ENST00000481733.1:n.413_426dup | ||
| ENST00000540249.5:c.892_905dup | ENSP00000440761.1:p.Glu302AspfsTer8 | |
| ENST00000545074.5:c.1006_1019dup | ENSP00000438550.1:p.Glu340AspfsTer8 | |
| NM_000284.3:c.985_998dup | NP_000275.1:p.Glu333AspfsTer8 | |
| NM_001173454.1:c.1099_1112dup | NP_001166925.1:p.Glu371AspfsTer8 | |
| NM_001173455.1:c.1006_1019dup | NP_001166926.1:p.Glu340AspfsTer8 | |
| NM_001173456.1:c.892_905dup | NP_001166927.1:p.Glu302AspfsTer8 | |
| XM_011545531.1:c.1120_1133dup | XP_011543833.1:p.Glu378AspfsTer8 | |
| XM_011545532.1:c.1027_1040dup | XP_011543834.1:p.Glu347AspfsTer8 | |
| XM_017029574.2:c.1006_1019dup | XP_016885063.1:p.Glu340AspfsTer8 | |
| NM_000284.4:c.985_998dup MANE Select | NP_000275.1:p.Glu333AspfsTer8 | |
| NM_001173454.2:c.1099_1112dup | NP_001166925.1:p.Glu371AspfsTer8 | |
| NM_001173455.2:c.1006_1019dup | NP_001166926.1:p.Glu340AspfsTer8 | |
| NM_001173456.2:c.892_905dup | NP_001166927.1:p.Glu302AspfsTer8 |