Linked Data
ClinVar Variation Id:
10880
dbSNP Id:
rs606231189
MyVariant Identifiers:
chrX:g.19377740_19377743dupATCA (hg19)
chrX:g.19359622_19359625dupATCA (hg38)
ERepo:
CA121215/MONDO:0019169/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359622_19359625dup , CM000685.2:g.19359622_19359625dup | GRCh38 |
| NC_000023.10:g.19377740_19377743dup , CM000685.1:g.19377740_19377743dup | GRCh37 |
| NC_000023.9:g.19287661_19287664dup | NCBI36 |
| NG_016781.1:g.20730_20733dup | |
| NG_021184.1:g.160639_160642dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.1163_1166dup | ENSP00000348062.6:p.Trp390SerfsTer6 | |
| ENST00000379805.4:c.*834_*837dup | ENSP00000369133.3:n.*834_*837dup | |
| ENST00000417819.6:c.1226_1229dup | ENSP00000404616.2:p.Trp411SerfsTer6 | |
| ENST00000423505.6:c.1256_1259dup | ENSP00000406473.2:p.Trp421SerfsTer6 | |
| ENST00000481733.2:n.937_940dup | ||
| ENST00000696704.1:c.*474_*477dup | ENSP00000512823.1:n.*474_*477dup | |
| ENST00000696705.1:c.*597_*600dup | ENSP00000512824.1:n.*597_*600dup | |
| ENST00000422285.7:c.1142_1145dup MANE Select | ENSP00000394382.2:p.Trp383SerfsTer6 | |
| ENST00000379804.1:c.299_302dup | ENSP00000369132.1:p.Trp102SerfsTer6 | |
| ENST00000379806.9:c.1256_1259dup | ENSP00000369134.5:p.Trp421SerfsTer6 | |
| ENST00000422285.6:c.1142_1145dup | ENSP00000394382.2:p.Trp383SerfsTer6 | |
| ENST00000478795.1:n.581_584dup | ||
| ENST00000540249.5:c.1049_1052dup | ENSP00000440761.1:p.Trp352SerfsTer6 | |
| ENST00000545074.5:c.1163_1166dup | ENSP00000438550.1:p.Trp390SerfsTer6 | |
| NM_000284.3:c.1142_1145dup | NP_000275.1:p.Trp383SerfsTer6 | |
| NM_001173454.1:c.1256_1259dup | NP_001166925.1:p.Trp421SerfsTer6 | |
| NM_001173455.1:c.1163_1166dup | NP_001166926.1:p.Trp390SerfsTer6 | |
| NM_001173456.1:c.1049_1052dup | NP_001166927.1:p.Trp352SerfsTer6 | |
| XM_011545531.1:c.1277_1280dup | XP_011543833.1:p.Trp428SerfsTer6 | |
| XM_011545532.1:c.1184_1187dup | XP_011543834.1:p.Trp397SerfsTer6 | |
| XM_017029574.2:c.1163_1166dup | XP_016885063.1:p.Trp390SerfsTer6 | |
| NM_000284.4:c.1142_1145dup MANE Select | NP_000275.1:p.Trp383SerfsTer6 | |
| NM_001173454.2:c.1256_1259dup | NP_001166925.1:p.Trp421SerfsTer6 | |
| NM_001173455.2:c.1163_1166dup | NP_001166926.1:p.Trp390SerfsTer6 | |
| NM_001173456.2:c.1049_1052dup | NP_001166927.1:p.Trp352SerfsTer6 |