ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22221620_22221622dup , CM000685.2:g.22221620_22221622dup | GRCh38 |
| NC_000023.10:g.22239737_22239739dup , CM000685.1:g.22239737_22239739dup | GRCh37 |
| NC_000023.9:g.22149658_22149660dup | NCBI36 |
| NG_007563.2:g.193817_193819dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682888.1:c.330_332dup (PHEX) | ENSP00000508003.1:p.Tyr111Ter | |
| ENST00000683162.1:c.330_332dup (PHEX) | ENSP00000508059.1:p.Tyr111Ter | |
| ENST00000683289.1:c.330_332dup (PHEX) | ENSP00000508195.1:p.Tyr111Ter | |
| ENST00000683917.1:n.560_562dup (PHEX) | ||
| ENST00000684356.1:c.330_332dup (PHEX) | ENSP00000507619.1:p.Tyr111Ter | |
| ENST00000684745.1:n.1450_1452dup (PHEX) | ||
| ENST00000379374.5:c.1776_1778dup (PHEX) MANE Select | ENSP00000368682.4:p.Tyr593Ter | |
| ENST00000379374.4:c.1776_1778dup (PHEX) | ENSP00000368682.4:p.Tyr593Ter | |
| NM_000444.5:c.1776_1778dup (PHEX) | NP_000435.3:p.Tyr593Ter | |
| NM_001282754.1:c.1776_1778dup (PHEX) | NP_001269683.1:p.Tyr593Ter | |
| XM_011545533.1:c.1020_1022dup (PHEX) | XP_011543835.1:p.Tyr341Ter | |
| XM_011545534.1:c.1020_1022dup (PHEX) | XP_011543836.1:p.Tyr341Ter | |
| XM_011545536.1:c.669_671dup (PHEX) | XP_011543838.1:p.Tyr224Ter | |
| NR_073010.2:n.1048+5849_1048+5851dup (PTCHD1-AS) | ||
| XM_011545536.2:c.669_671dup (PHEX) | XP_011543838.1:p.Tyr224Ter | |
| XM_017029579.1:c.1020_1022dup (PHEX) | XP_016885068.1:p.Tyr341Ter | |
| XM_024452390.1:c.1485_1487dup (PHEX) | XP_024308158.1:p.Tyr496Ter | |
| XR_001755695.1:n.2616_2618dup (PHEX) | ||
| NM_000444.6:c.1776_1778dup (PHEX) MANE Select | NP_000435.3:p.Tyr593Ter | |
| NM_001282754.2:c.1776_1778dup (PHEX) | NP_001269683.1:p.Tyr593Ter |