Canonical Allele Identifier: CA2695231805
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226498_22226509del , CM000685.2:g.22226498_22226509del GRCh38
NC_000023.10:g.22244615_22244626del , CM000685.1:g.22244615_22244626del GRCh37
NC_000023.9:g.22154536_22154547del NCBI36
NG_007563.2:g.198695_198706del

Transcript Alleles

HGVS Amino-acid change
ENST00000683162.1:c.509_519+1del (PHEX)
ENST00000683289.1:c.509_519+1del (PHEX)
ENST00000683917.1:n.739_749+1del (PHEX)
ENST00000684356.1:c.509_519+1del (PHEX)
ENST00000684745.1:n.1629_1639+1del (PHEX)
ENST00000379374.5:c.1955_1965+1del (PHEX)
ENST00000379374.4:c.1955_1965+1del (PHEX)
NM_000444.5:c.1955_1965+1del (PHEX)
NM_001282754.1:c.1955_1965+1del (PHEX)
XM_011545533.1:c.1199_1209+1del (PHEX)
XM_011545534.1:c.1199_1209+1del (PHEX)
XM_011545536.1:c.848_858+1del (PHEX)
XR_950534.1:n.326-483_326-472del
NR_073010.2:n.1048+964_1048+975del (PTCHD1-AS)
XM_011545536.2:c.848_858+1del (PHEX)
XM_017029579.1:c.1199_1209+1del (PHEX)
XM_024452390.1:c.1664_1674+1del (PHEX)
XR_001755695.1:n.2795_2805+1del (PHEX)
NM_000444.6:c.1955_1965+1del (PHEX)
NM_001282754.2:c.1955_1965+1del (PHEX)