Canonical Allele Identifier: CA16621335
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 423453
ClinVar RCV Id: RCV000481401
dbSNP Id: rs1064796436

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226504_22226506delinsCT , CM000685.2:g.22226504_22226506delinsCT GRCh38
NC_000023.10:g.22244621_22244623delinsCT , CM000685.1:g.22244621_22244623delinsCT GRCh37
NC_000023.9:g.22154542_22154544delinsCT NCBI36
NG_007563.2:g.198701_198703delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.515_*2delinsCT (PHEX)
ENST00000683162.1:c.515_517delinsCT (PHEX) ENSP00000508059.1:p.Phe172SerfsTer8
ENST00000683289.1:c.515_517delinsCT (PHEX) ENSP00000508195.1:p.Phe172SerfsTer8
ENST00000683917.1:n.745_747delinsCT (PHEX)
ENST00000684356.1:c.515_517delinsCT (PHEX) ENSP00000507619.1:p.Phe172SerfsTer8
ENST00000684745.1:n.1635_1637delinsCT (PHEX)
ENST00000379374.5:c.1961_1963delinsCT (PHEX) MANE Select ENSP00000368682.4:p.Phe654SerfsTer8
ENST00000379374.4:c.1961_1963delinsCT (PHEX) ENSP00000368682.4:p.Phe654SerfsTer8
NM_000444.5:c.1961_1963delinsCT (PHEX) NP_000435.3:p.Phe654SerfsTer8
NM_001282754.1:c.1961_1963delinsCT (PHEX) NP_001269683.1:p.Phe654SerfsTer8
XM_011545533.1:c.1205_1207delinsCT (PHEX) XP_011543835.1:p.Phe402SerfsTer8
XM_011545534.1:c.1205_1207delinsCT (PHEX) XP_011543836.1:p.Phe402SerfsTer8
XM_011545536.1:c.854_856delinsCT (PHEX) XP_011543838.1:p.Phe285SerfsTer8
XR_950534.1:n.326-483_326-481delinsAG
NR_073010.2:n.1048+964_1048+966delinsAG (PTCHD1-AS)
XM_011545536.2:c.854_856delinsCT (PHEX) XP_011543838.1:p.Phe285SerfsTer8
XM_017029579.1:c.1205_1207delinsCT (PHEX) XP_016885068.1:p.Phe402SerfsTer8
XM_024452390.1:c.1670_1672delinsCT (PHEX) XP_024308158.1:p.Phe557SerfsTer8
XR_001755695.1:n.2801_2803delinsCT (PHEX)
NM_000444.6:c.1961_1963delinsCT (PHEX) MANE Select NP_000435.3:p.Phe654SerfsTer8
NM_001282754.2:c.1961_1963delinsCT (PHEX) NP_001269683.1:p.Phe654SerfsTer8