Linked Data
ClinVar Variation Id:
374096
ClinVar RCV Id:
RCV000414906
dbSNP Id:
rs1057518896
MyVariant Identifiers:
chrX:g.22265987_22265990dupAACT (hg19)
chrX:g.22247870_22247873dupAACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22247870_22247873dup , CM000685.2:g.22247870_22247873dup | GRCh38 |
| NC_000023.10:g.22265987_22265990dup , CM000685.1:g.22265987_22265990dup | GRCh37 |
| NC_000023.9:g.22175908_22175911dup | NCBI36 |
| NG_007563.2:g.220067_220070dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.*105_*108dup (PHEX) | ENSP00000508059.1:n.*105_*108dup | |
| ENST00000683289.1:c.624+20259_624+20262dup (PHEX) | ENSP00000508195.1:n.624+20259_624+20262dup | |
| ENST00000683917.1:n.951_954dup (PHEX) | ||
| ENST00000684356.1:c.721_724dup (PHEX) | ENSP00000507619.1:p.Phe242Ter | |
| ENST00000684745.1:n.1841_1844dup (PHEX) | ||
| ENST00000379374.5:c.2167_2170dup (PHEX) MANE Select | ENSP00000368682.4:p.Phe724Ter | |
| ENST00000379374.4:c.2167_2170dup (PHEX) | ENSP00000368682.4:p.Phe724Ter | |
| NM_000444.5:c.2167_2170dup (PHEX) | NP_000435.3:p.Phe724Ter | |
| NM_001282754.1:c.*2_*5dup (PHEX) | NP_001269683.1:n.*2_*5dup | |
| XM_011545533.1:c.1411_1414dup (PHEX) | XP_011543835.1:p.Phe472Ter | |
| XM_011545534.1:c.1411_1414dup (PHEX) | XP_011543836.1:p.Phe472Ter | |
| XM_011545536.1:c.1060_1063dup (PHEX) | XP_011543838.1:p.Phe355Ter | |
| XR_950533.1:n.140+6067_140+6070dup | ||
| XR_950534.1:n.127+6067_127+6070dup | ||
| NR_073010.2:n.850+6067_850+6070dup (PTCHD1-AS) | ||
| XM_011545536.2:c.1060_1063dup (PHEX) | XP_011543838.1:p.Phe355Ter | |
| XM_017029579.1:c.1411_1414dup (PHEX) | XP_016885068.1:p.Phe472Ter | |
| XM_024452390.1:c.1876_1879dup (PHEX) | XP_024308158.1:p.Phe627Ter | |
| XR_001755695.1:n.3007_3010dup (PHEX) | ||
| NM_000444.6:c.2167_2170dup (PHEX) MANE Select | NP_000435.3:p.Phe724Ter | |
| NM_001282754.2:c.*2_*5dup (PHEX) | NP_001269683.1:n.*2_*5dup |