Canonical Allele Identifier: CA657761314
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22247967_22247968insG , CM000685.2:g.22247967_22247968insG GRCh38
NC_000023.10:g.22266084_22266085insG , CM000685.1:g.22266084_22266085insG GRCh37
NC_000023.9:g.22176005_22176006insG NCBI36
NG_007563.2:g.220164_220165insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000683162.1:c.*202_*203insG (PHEX) ENSP00000508059.1:n.*202_*203insG
ENST00000683289.1:c.624+20356_624+20357insG (PHEX) ENSP00000508195.1:n.624+20356_624+20357insG
ENST00000683917.1:n.1048_1049insG (PHEX)
ENST00000684356.1:c.*14_*15insG (PHEX) ENSP00000507619.1:n.*14_*15insG
ENST00000684745.1:n.1938_1939insG (PHEX)
ENST00000379374.5:c.*14_*15insG (PHEX) MANE Select ENSP00000368682.4:n.*14_*15insG
ENST00000379374.4:c.*14_*15insG (PHEX) ENSP00000368682.4:n.*14_*15insG
NM_000444.5:c.*14_*15insG (PHEX) NP_000435.3:n.*14_*15insG
NM_001282754.1:c.*99_*100insG (PHEX) NP_001269683.1:n.*99_*100insG
XM_011545533.1:c.*14_*15insG (PHEX) XP_011543835.1:n.*14_*15insG
XM_011545534.1:c.*14_*15insG (PHEX) XP_011543836.1:n.*14_*15insG
XM_011545536.1:c.*14_*15insG (PHEX) XP_011543838.1:n.*14_*15insG
XR_950533.1:n.140+5971_140+5972insC
XR_950534.1:n.127+5971_127+5972insC
NR_073010.2:n.850+5971_850+5972insC (PTCHD1-AS)
XM_011545536.2:c.*14_*15insG (PHEX) XP_011543838.1:n.*14_*15insG
XM_017029579.1:c.*14_*15insG (PHEX) XP_016885068.1:n.*14_*15insG
XM_024452390.1:c.*14_*15insG (PHEX) XP_024308158.1:n.*14_*15insG
XR_001755695.1:n.3104_3105insG (PHEX)
NM_000444.6:c.*14_*15insG (PHEX) MANE Select NP_000435.3:n.*14_*15insG
NM_001282754.2:c.*99_*100insG (PHEX) NP_001269683.1:n.*99_*100insG