Linked Data
ClinVar Variation Id:
373140
ClinVar RCV Id:
RCV000413688
dbSNP Id:
rs1057518246
MyVariant Identifiers:
chrX:g.22245686_22245690dupCACAT (hg19)
chrX:g.22227569_22227573dupCACAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22227569_22227573dup , CM000685.2:g.22227569_22227573dup | GRCh38 |
| NC_000023.10:g.22245686_22245690dup , CM000685.1:g.22245686_22245690dup | GRCh37 |
| NC_000023.9:g.22155607_22155611dup | NCBI36 |
| NG_007563.2:g.199766_199770dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683162.1:c.582_586dup (PHEX) | ENSP00000508059.1:p.Phe196SerfsTer11 | |
| ENST00000683289.1:c.582_586dup (PHEX) | ENSP00000508195.1:p.Phe196SerfsTer11 | |
| ENST00000683917.1:n.812_816dup (PHEX) | ||
| ENST00000684356.1:c.582_586dup (PHEX) | ENSP00000507619.1:p.Phe196SerfsTer11 | |
| ENST00000684745.1:n.1702_1706dup (PHEX) | ||
| ENST00000379374.5:c.2028_2032dup (PHEX) MANE Select | ENSP00000368682.4:p.Phe678SerfsTer11 | |
| ENST00000379374.4:c.2028_2032dup (PHEX) | ENSP00000368682.4:p.Phe678SerfsTer11 | |
| NM_000444.5:c.2028_2032dup (PHEX) | NP_000435.3:p.Phe678SerfsTer11 | |
| NM_001282754.1:c.2028_2032dup (PHEX) | NP_001269683.1:p.Phe678SerfsTer11 | |
| XM_011545533.1:c.1272_1276dup (PHEX) | XP_011543835.1:p.Phe426SerfsTer11 | |
| XM_011545534.1:c.1272_1276dup (PHEX) | XP_011543836.1:p.Phe426SerfsTer11 | |
| XM_011545536.1:c.921_925dup (PHEX) | XP_011543838.1:p.Phe309SerfsTer11 | |
| XR_950534.1:n.225_229dup | ||
| NR_073010.2:n.948_952dup (PTCHD1-AS) | ||
| XM_011545536.2:c.921_925dup (PHEX) | XP_011543838.1:p.Phe309SerfsTer11 | |
| XM_017029579.1:c.1272_1276dup (PHEX) | XP_016885068.1:p.Phe426SerfsTer11 | |
| XM_024452390.1:c.1737_1741dup (PHEX) | XP_024308158.1:p.Phe581SerfsTer11 | |
| XR_001755695.1:n.2868_2872dup (PHEX) | ||
| NM_000444.6:c.2028_2032dup (PHEX) MANE Select | NP_000435.3:p.Phe678SerfsTer11 | |
| NM_001282754.2:c.2028_2032dup (PHEX) | NP_001269683.1:p.Phe678SerfsTer11 |