Canonical Allele Identifier: CA2695231835

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247857_22247872delinsA , CM000685.2:g.22247857_22247872delinsA	GRCh38
NC_000023.10:g.22265974_22265989delinsA , CM000685.1:g.22265974_22265989delinsA	GRCh37
NC_000023.9:g.22175895_22175910delinsA	NCBI36
NG_007563.2:g.220054_220069delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*92_*107delinsA (PHEX)	ENSP00000508059.1:n.*92_*107delinsA
ENST00000683289.1:c.624+20246_624+20261delinsA (PHEX)	ENSP00000508195.1:n.624+20246_624+20261de...
ENST00000683917.1:n.938_953delinsA (PHEX)
ENST00000684356.1:c.708_723delinsA (PHEX)	ENSP00000507619.1:p.Asn236_Asn241delinsLy...
ENST00000684745.1:n.1828_1843delinsA (PHEX)
ENST00000379374.5:c.2154_2169delinsA (PHEX) MANE Select	ENSP00000368682.4:p.Asn718_Asn723delinsLy...
ENST00000379374.4:c.2154_2169delinsA (PHEX)	ENSP00000368682.4:p.Asn718_Asn723delinsLy...
NM_000444.5:c.2154_2169delinsA (PHEX)	NP_000435.3:p.Asn718_Asn723delinsLys
NM_001282754.1:c.2077_*4delinsA (PHEX)	NP_001269683.1:n.[c.2077_*4delinsA;Trp693...
XM_011545533.1:c.1398_1413delinsA (PHEX)	XP_011543835.1:p.Asn466_Asn471delinsLys
XM_011545534.1:c.1398_1413delinsA (PHEX)	XP_011543836.1:p.Asn466_Asn471delinsLys
XM_011545536.1:c.1047_1062delinsA (PHEX)	XP_011543838.1:p.Asn349_Asn354delinsLys
XR_950533.1:n.140+6067_140+6082delinsT
XR_950534.1:n.127+6067_127+6082delinsT
NR_073010.2:n.850+6067_850+6082delinsT (PTCHD1-AS)
XM_011545536.2:c.1047_1062delinsA (PHEX)	XP_011543838.1:p.Asn349_Asn354delinsLys
XM_017029579.1:c.1398_1413delinsA (PHEX)	XP_016885068.1:p.Asn466_Asn471delinsLys
XM_024452390.1:c.1863_1878delinsA (PHEX)	XP_024308158.1:p.Asn621_Asn626delinsLys
XR_001755695.1:n.2994_3009delinsA (PHEX)
NM_000444.6:c.2154_2169delinsA (PHEX) MANE Select	NP_000435.3:p.Asn718_Asn723delinsLys
NM_001282754.2:c.2077_*4delinsA (PHEX)	NP_001269683.1:n.[c.2077_*4delinsA;Trp693...