Canonical Allele Identifier: CA2820019543
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22247960_22247961insTACA , CM000685.2:g.22247960_22247961insTACA GRCh38
NC_000023.10:g.22266077_22266078insTACA , CM000685.1:g.22266077_22266078insTACA GRCh37
NC_000023.9:g.22175998_22175999insTACA NCBI36
NG_007563.2:g.220157_220158insTACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000683162.1:c.*195_*196insTACA (PHEX) ENSP00000508059.1:n.*195_*196insTACA
ENST00000683289.1:c.624+20349_624+20350insTACA (PHEX) ENSP00000508195.1:n.624+20349_624+20350insTACA
ENST00000683917.1:n.1041_1042insTACA (PHEX)
ENST00000684356.1:c.*7_*8insTACA (PHEX) ENSP00000507619.1:n.*7_*8insTACA
ENST00000684745.1:n.1931_1932insTACA (PHEX)
ENST00000379374.5:c.*7_*8insTACA (PHEX) MANE Select ENSP00000368682.4:n.*7_*8insTACA
ENST00000379374.4:c.*7_*8insTACA (PHEX) ENSP00000368682.4:n.*7_*8insTACA
NM_000444.5:c.*7_*8insTACA (PHEX) NP_000435.3:n.*7_*8insTACA
NM_001282754.1:c.*92_*93insTACA (PHEX) NP_001269683.1:n.*92_*93insTACA
XM_011545533.1:c.*7_*8insTACA (PHEX) XP_011543835.1:n.*7_*8insTACA
XM_011545534.1:c.*7_*8insTACA (PHEX) XP_011543836.1:n.*7_*8insTACA
XM_011545536.1:c.*7_*8insTACA (PHEX) XP_011543838.1:n.*7_*8insTACA
XR_950533.1:n.140+5978_140+5979insTGTA
XR_950534.1:n.127+5978_127+5979insTGTA
NR_073010.2:n.850+5978_850+5979insTGTA (PTCHD1-AS)
XM_011545536.2:c.*7_*8insTACA (PHEX) XP_011543838.1:n.*7_*8insTACA
XM_017029579.1:c.*7_*8insTACA (PHEX) XP_016885068.1:n.*7_*8insTACA
XM_024452390.1:c.*7_*8insTACA (PHEX) XP_024308158.1:n.*7_*8insTACA
XR_001755695.1:n.3097_3098insTACA (PHEX)
NM_000444.6:c.*7_*8insTACA (PHEX) MANE Select NP_000435.3:n.*7_*8insTACA
NM_001282754.2:c.*92_*93insTACA (PHEX) NP_001269683.1:n.*92_*93insTACA