Linked Data
ClinVar Variation Id:
286138
ClinVar RCV Id:
RCV000336798
dbSNP Id:
rs1057515583
MyVariant Identifiers:
chrX:g.153591113_153591114insTT (hg19)
chrX:g.154362745_154362746insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154362747_154362748dup , CM000685.2:g.154362747_154362748dup | GRCh38 |
| NC_000023.10:g.153591115_153591116dup , CM000685.1:g.153591115_153591116dup | GRCh37 |
| NC_000023.9:g.153244309_153244310dup | NCBI36 |
| NG_011506.1:g.16892_16893dup | |
| NG_011506.2:g.16892_16893dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.2318_2319dup | ENSP00000353467.4:p.Val774LysfsTer7 | |
| ENST00000369850.10:c.2318_2319dup MANE Select | ENSP00000358866.3:p.Val774LysfsTer7 | |
| ENST00000369856.8:c.2237_2238dup | ENSP00000358872.4:p.Val747LysfsTer7 | |
| ENST00000422373.6:c.2318_2319dup | ENSP00000416926.2:p.Val774LysfsTer7 | |
| ENST00000610817.5:c.2375_2376dup | ENSP00000480593.2:n.2375_2376dup | |
| ENST00000673639.2:c.279+2689_279+2690dup | ||
| ENST00000676696.1:c.2597_2598dup | ENSP00000503392.1:n.2597_2598dup | |
| ENST00000344736.8:c.2318_2319dup | ENSP00000358863.3:p.Val774LysfsTer7 | |
| ENST00000360319.8:c.2318_2319dup | ENSP00000353467.4:p.Val774LysfsTer7 | |
| ENST00000369850.7:c.2318_2319dup | ENSP00000358866.3:p.Val774LysfsTer7 | |
| ENST00000369856.7:c.2237_2238dup | ENSP00000358872.4:p.Val747LysfsTer7 | |
| ENST00000420627.5:c.2274_2275dup | ENSP00000408921.1:n.2274_2275dup | |
| ENST00000422373.5:c.2318_2319dup | ENSP00000416926.1:p.Val774LysfsTer7 | |
| ENST00000610817.4:c.2237_2238dup | ENSP00000480593.1:p.Val747LysfsTer7 | |
| NM_001110556.1:c.2318_2319dup | NP_001104026.1:p.Val774LysfsTer7 | |
| NM_001456.3:c.2318_2319dup | NP_001447.2:p.Val774LysfsTer7 | |
| XM_011531127.1:c.2318_2319dup | XP_011529429.1:p.Val774LysfsTer7 | |
| XM_011531128.1:c.2318_2319dup | XP_011529430.1:p.Val774LysfsTer7 | |
| XM_011531129.1:c.2318_2319dup | XP_011529431.1:p.Val774LysfsTer7 | |
| XM_011531130.1:c.2318_2319dup | XP_011529432.1:p.Val774LysfsTer7 | |
| XM_011531131.1:c.2117_2118dup | XP_011529433.1:p.Val707LysfsTer7 | |
| NM_001110556.2:c.2318_2319dup MANE Select | NP_001104026.1:p.Val774LysfsTer7 | |
| NM_001456.4:c.2318_2319dup | NP_001447.2:p.Val774LysfsTer7 |