Canonical Allele Identifier: CA2695231838

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247869delinsGG , CM000685.2:g.22247869delinsGG	GRCh38
NC_000023.10:g.22265986delinsGG , CM000685.1:g.22265986delinsGG	GRCh37
NC_000023.9:g.22175907delinsGG	NCBI36
NG_007563.2:g.220066delinsGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*104delinsGG (PHEX)	ENSP00000508059.1:n.*104delinsGG
ENST00000683289.1:c.624+20258delinsGG (PHEX)	ENSP00000508195.1:n.624+20258delinsGG
ENST00000683917.1:n.950delinsGG (PHEX)
ENST00000684356.1:c.720delinsGG (PHEX)	ENSP00000507619.1:p.Ser240ArgfsTer4
ENST00000684745.1:n.1840delinsGG (PHEX)
ENST00000379374.5:c.2166delinsGG (PHEX) MANE Select	ENSP00000368682.4:p.Ser722ArgfsTer4
ENST00000379374.4:c.2166delinsGG (PHEX)	ENSP00000368682.4:p.Ser722ArgfsTer4
NM_000444.5:c.2166delinsGG (PHEX)	NP_000435.3:p.Ser722ArgfsTer4
NM_001282754.1:c.*1delinsGG (PHEX)	NP_001269683.1:n.*1delinsGG
XM_011545533.1:c.1410delinsGG (PHEX)	XP_011543835.1:p.Ser470ArgfsTer4
XM_011545534.1:c.1410delinsGG (PHEX)	XP_011543836.1:p.Ser470ArgfsTer4
XM_011545536.1:c.1059delinsGG (PHEX)	XP_011543838.1:p.Ser353ArgfsTer4
XR_950533.1:n.140+6070delinsCC
XR_950534.1:n.127+6070delinsCC
NR_073010.2:n.850+6070delinsCC (PTCHD1-AS)
XM_011545536.2:c.1059delinsGG (PHEX)	XP_011543838.1:p.Ser353ArgfsTer4
XM_017029579.1:c.1410delinsGG (PHEX)	XP_016885068.1:p.Ser470ArgfsTer4
XM_024452390.1:c.1875delinsGG (PHEX)	XP_024308158.1:p.Ser625ArgfsTer4
XR_001755695.1:n.3006delinsGG (PHEX)
NM_000444.6:c.2166delinsGG (PHEX) MANE Select	NP_000435.3:p.Ser722ArgfsTer4
NM_001282754.2:c.*1delinsGG (PHEX)	NP_001269683.1:n.*1delinsGG