Linked Data
dbSNP Id:
rs1569433925
gnomAD v2:
X-22244522-GCATT-G
gnomAD v4:
X-22226405-GCATT-G
MyVariant Identifiers:
chrX:g.22244523_22244526del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22226410_22226413del , CM000685.2:g.22226410_22226413del | GRCh38 |
| NC_000023.10:g.22244527_22244530del , CM000685.1:g.22244527_22244530del | GRCh37 |
| NC_000023.9:g.22154448_22154451del | NCBI36 |
| NG_007563.2:g.198607_198610del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682888.1:c.454-33_454-30del (PHEX) | ENSP00000508003.1:n.454-33_454-30del | |
| ENST00000683162.1:c.454-33_454-30del (PHEX) | ENSP00000508059.1:n.454-33_454-30del | |
| ENST00000683289.1:c.454-33_454-30del (PHEX) | ENSP00000508195.1:n.454-33_454-30del | |
| ENST00000683917.1:n.684-33_684-30del (PHEX) | ||
| ENST00000684356.1:c.454-33_454-30del (PHEX) | ENSP00000507619.1:n.454-33_454-30del | |
| ENST00000684745.1:n.1574-33_1574-30del (PHEX) | ||
| ENST00000379374.5:c.1900-33_1900-30del (PHEX) MANE Select | ENSP00000368682.4:n.1900-33_1900-30del | |
| ENST00000379374.4:c.1900-33_1900-30del (PHEX) | ENSP00000368682.4:n.1900-33_1900-30del | |
| NM_000444.5:c.1900-33_1900-30del (PHEX) | NP_000435.3:n.1900-33_1900-30del | |
| NM_001282754.1:c.1900-33_1900-30del (PHEX) | NP_001269683.1:n.1900-33_1900-30del | |
| XM_011545533.1:c.1144-33_1144-30del (PHEX) | XP_011543835.1:n.1144-33_1144-30del | |
| XM_011545534.1:c.1144-33_1144-30del (PHEX) | XP_011543836.1:n.1144-33_1144-30del | |
| XM_011545536.1:c.793-33_793-30del (PHEX) | XP_011543838.1:n.793-33_793-30del | |
| XR_950534.1:n.326-386_326-383del | ||
| NR_073010.2:n.1048+1061_1048+1064del (PTCHD1-AS) | ||
| XM_011545536.2:c.793-33_793-30del (PHEX) | XP_011543838.1:n.793-33_793-30del | |
| XM_017029579.1:c.1144-33_1144-30del (PHEX) | XP_016885068.1:n.1144-33_1144-30del | |
| XM_024452390.1:c.1609-33_1609-30del (PHEX) | XP_024308158.1:n.1609-33_1609-30del | |
| XR_001755695.1:n.2740-33_2740-30del (PHEX) | ||
| NM_000444.6:c.1900-33_1900-30del (PHEX) MANE Select | NP_000435.3:n.1900-33_1900-30del | |
| NM_001282754.2:c.1900-33_1900-30del (PHEX) | NP_001269683.1:n.1900-33_1900-30del |