Linked Data
ClinVar Variation Id:
214945
dbSNP Id:
rs137853251
MyVariant Identifiers:
chrX:g.19377071_19377074dupAAGA (hg19)
chrX:g.19358953_19358956dupAAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19358953_19358956dup , CM000685.2:g.19358953_19358956dup | GRCh38 |
| NC_000023.10:g.19377071_19377074dup , CM000685.1:g.19377071_19377074dup | GRCh37 |
| NC_000023.9:g.19286992_19286995dup | NCBI36 |
| NG_016781.1:g.20061_20064dup | |
| NG_021184.1:g.161306_161309dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.958_961dup | ENSP00000348062.6:p.Ser321LysfsTer3 | |
| ENST00000379805.4:c.*629_*632dup | ENSP00000369133.3:n.*629_*632dup | |
| ENST00000417819.6:c.1021_1024dup | ENSP00000404616.2:p.Ser342LysfsTer3 | |
| ENST00000423505.6:c.1051_1054dup | ENSP00000406473.2:p.Ser352LysfsTer3 | |
| ENST00000481733.2:n.732_735dup | ||
| ENST00000696704.1:c.*269_*272dup | ENSP00000512823.1:n.*269_*272dup | |
| ENST00000696705.1:c.*392_*395dup | ENSP00000512824.1:n.*392_*395dup | |
| ENST00000422285.7:c.937_940dup MANE Select | ENSP00000394382.2:p.Ser314LysfsTer3 | |
| ENST00000379804.1:c.94_97dup | ENSP00000369132.1:p.Ser33LysfsTer3 | |
| ENST00000379806.9:c.1051_1054dup | ENSP00000369134.5:p.Ser352LysfsTer3 | |
| ENST00000422285.6:c.937_940dup | ENSP00000394382.2:p.Ser314LysfsTer3 | |
| ENST00000478795.1:n.376_379dup | ||
| ENST00000481733.1:n.365_368dup | ||
| ENST00000540249.5:c.844_847dup | ENSP00000440761.1:p.Ser283LysfsTer3 | |
| ENST00000545074.5:c.958_961dup | ENSP00000438550.1:p.Ser321LysfsTer3 | |
| NM_000284.3:c.937_940dup | NP_000275.1:p.Ser314LysfsTer3 | |
| NM_001173454.1:c.1051_1054dup | NP_001166925.1:p.Ser352LysfsTer3 | |
| NM_001173455.1:c.958_961dup | NP_001166926.1:p.Ser321LysfsTer3 | |
| NM_001173456.1:c.844_847dup | NP_001166927.1:p.Ser283LysfsTer3 | |
| XM_011545531.1:c.1072_1075dup | XP_011543833.1:p.Ser359LysfsTer3 | |
| XM_011545532.1:c.979_982dup | XP_011543834.1:p.Ser328LysfsTer3 | |
| XM_017029574.2:c.958_961dup | XP_016885063.1:p.Ser321LysfsTer3 | |
| NM_000284.4:c.937_940dup MANE Select | NP_000275.1:p.Ser314LysfsTer3 | |
| NM_001173454.2:c.1051_1054dup | NP_001166925.1:p.Ser352LysfsTer3 | |
| NM_001173455.2:c.958_961dup | NP_001166926.1:p.Ser321LysfsTer3 | |
| NM_001173456.2:c.844_847dup | NP_001166927.1:p.Ser283LysfsTer3 |