Linked Data
ClinVar Variation Id:
195297
ClinVar RCV Id:
RCV000175860
dbSNP Id:
rs111618469
ExAC:
X:12516777 C / CT
gnomAD v2:
X-12516777-C-CT
gnomAD v3:
X-12498658-C-CT
gnomAD v4:
X-12498658-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.12498670dup , CM000685.2:g.12498670dup | GRCh38 |
| NC_000023.10:g.12516789dup , CM000685.1:g.12516789dup | GRCh37 |
| NC_000023.9:g.12426710dup | NCBI36 |
| NG_016419.1:g.365205dup | |
| NG_016419.2:g.365205dup | |
| NG_016419.3:g.681210dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616992.2:c.-79-10dup | ENSP00000482182.2:n.-79-10dup | |
| ENST00000657176.2:c.18-10dup | ENSP00000499417.2:n.18-10dup | |
| ENST00000672869.2:c.96-10dup | ENSP00000500566.2:n.96-10dup | |
| ENST00000673271.2:n.695-10dup | ||
| ENST00000640291.2:c.96-10dup | ENSP00000492353.2:n.96-10dup | |
| ENST00000656302.1:c.96-10dup | ENSP00000499481.1:n.96-10dup | |
| ENST00000657176.1:c.96-10dup | ENSP00000499417.1:n.96-10dup | |
| ENST00000657982.1:n.239-10dup | ||
| ENST00000672010.1:c.33-10dup | ENSP00000499962.1:n.33-10dup | |
| ENST00000672340.1:n.106-10dup | ||
| ENST00000672861.1:n.98-10dup | ||
| ENST00000673271.1:n.98-10dup | ||
| ENST00000675598.1:c.42-10dup MANE Select | ENSP00000502607.1:n.42-10dup | |
| ENST00000380682.5:c.42-10dup | ENSP00000370057.1:n.42-10dup | |
| NM_014728.3:c.42-10dup | NP_055543.2:n.42-10dup | |
| XM_005274632.2:c.42-10dup | XP_005274689.1:n.42-10dup | |
| XM_011545613.1:c.42-10dup | XP_011543915.1:n.42-10dup | |
| XM_005274632.3:c.114-10dup | XP_005274689.2:n.114-10dup | |
| XM_011545613.2:c.42-10dup | XP_011543915.1:n.42-10dup | |
| XM_017029983.1:c.33-10dup | XP_016885472.1:n.33-10dup | |
| XM_017029984.1:c.114-10dup | XP_016885473.1:n.114-10dup | |
| XM_017029985.1:c.114-10dup | XP_016885474.1:n.114-10dup | |
| XM_017029986.1:c.33-10dup | XP_016885475.1:n.33-10dup | |
| NM_001368395.2:c.153-10dup | NP_001355324.1:n.153-10dup | |
| NM_001368396.3:c.42-10dup | NP_001355325.1:n.42-10dup | |
| NM_001368397.1:c.42-10dup MANE Select | NP_001355326.1:n.42-10dup | |
| NM_001368398.2:c.153-10dup | NP_001355327.1:n.153-10dup | |
| NM_001368399.2:c.33-10dup | NP_001355328.1:n.33-10dup | |
| NM_001368400.2:c.-79-10dup | NP_001355329.1:n.-79-10dup | |
| NM_001368401.1:c.18-10dup | NP_001355330.1:n.18-10dup | |
| NM_001368402.2:c.18-10dup | NP_001355331.1:n.18-10dup | |
| NM_001368395.3:c.153-10dup | NP_001355324.1:n.153-10dup | |
| NM_001368398.3:c.153-10dup | NP_001355327.1:n.153-10dup | |
| NM_001368399.3:c.33-10dup | NP_001355328.1:n.33-10dup | |
| NM_001368400.3:c.-79-10dup | NP_001355329.1:n.-79-10dup | |
| NM_001368402.3:c.18-10dup | NP_001355331.1:n.18-10dup |