Linked Data
dbSNP Id:
rs2147217574
gnomAD v3:
X-22248009-C-CACTGAGCCTTCATCGCCCATTGCTT
gnomAD v4:
X-22248009-C-CACTGAGCCTTCATCGCCCATTGCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22248010_22248034dup , CM000685.2:g.22248010_22248034dup | GRCh38 |
| NC_000023.10:g.22266127_22266151dup , CM000685.1:g.22266127_22266151dup | GRCh37 |
| NC_000023.9:g.22176048_22176072dup | NCBI36 |
| NG_007563.2:g.220207_220231dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.*245_*269dup (PHEX) | ENSP00000508059.1:n.*245_*269dup | |
| ENST00000683289.1:c.624+20399_624+20423dup (PHEX) | ENSP00000508195.1:n.624+20399_624+20423dup | |
| ENST00000683917.1:n.1091_1115dup (PHEX) | ||
| ENST00000684356.1:c.*57_*81dup (PHEX) | ENSP00000507619.1:n.*57_*81dup | |
| ENST00000684745.1:n.1981_2005dup (PHEX) | ||
| ENST00000379374.5:c.*57_*81dup (PHEX) MANE Select | ENSP00000368682.4:n.*57_*81dup | |
| ENST00000379374.4:c.*57_*81dup (PHEX) | ENSP00000368682.4:n.*57_*81dup | |
| NM_000444.5:c.*57_*81dup (PHEX) | NP_000435.3:n.*57_*81dup | |
| NM_001282754.1:c.*142_*166dup (PHEX) | NP_001269683.1:n.*142_*166dup | |
| XM_011545533.1:c.*57_*81dup (PHEX) | XP_011543835.1:n.*57_*81dup | |
| XM_011545534.1:c.*57_*81dup (PHEX) | XP_011543836.1:n.*57_*81dup | |
| XM_011545536.1:c.*57_*81dup (PHEX) | XP_011543838.1:n.*57_*81dup | |
| XR_950533.1:n.140+5905_140+5929dup | ||
| XR_950534.1:n.127+5905_127+5929dup | ||
| NR_073010.2:n.850+5905_850+5929dup (PTCHD1-AS) | ||
| XM_011545536.2:c.*57_*81dup (PHEX) | XP_011543838.1:n.*57_*81dup | |
| XM_017029579.1:c.*57_*81dup (PHEX) | XP_016885068.1:n.*57_*81dup | |
| XM_024452390.1:c.*57_*81dup (PHEX) | XP_024308158.1:n.*57_*81dup | |
| XR_001755695.1:n.3147_3171dup (PHEX) | ||
| NM_000444.6:c.*57_*81dup (PHEX) MANE Select | NP_000435.3:n.*57_*81dup | |
| NM_001282754.2:c.*142_*166dup (PHEX) | NP_001269683.1:n.*142_*166dup |