Canonical Allele Identifier: CA2695231837

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247865_22247866insCCCT , CM000685.2:g.22247865_22247866insCCCT	GRCh38
NC_000023.10:g.22265982_22265983insCCCT , CM000685.1:g.22265982_22265983insCCCT	GRCh37
NC_000023.9:g.22175903_22175904insCCCT	NCBI36
NG_007563.2:g.220062_220063insCCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*100_*101insCCCT (PHEX)	ENSP00000508059.1:n.*100_*101insCCCT
ENST00000683289.1:c.624+20254_624+20255insCCCT (PHEX)	ENSP00000508195.1:n.624+20254_624+20255in...
ENST00000683917.1:n.946_947insCCCT (PHEX)
ENST00000684356.1:c.716_717insCCCT (PHEX)	ENSP00000507619.1:p.Ser240ProfsTer2
ENST00000684745.1:n.1836_1837insCCCT (PHEX)
ENST00000379374.5:c.2162_2163insCCCT (PHEX) MANE Select	ENSP00000368682.4:p.Ser722ProfsTer2
ENST00000379374.4:c.2162_2163insCCCT (PHEX)	ENSP00000368682.4:p.Ser722ProfsTer2
NM_000444.5:c.2162_2163insCCCT (PHEX)	NP_000435.3:p.Ser722ProfsTer2
NM_001282754.1:c.2085_2086insCCCT (PHEX)	NP_001269683.1:p.Ter696ProextTer20
XM_011545533.1:c.1406_1407insCCCT (PHEX)	XP_011543835.1:p.Ser470ProfsTer2
XM_011545534.1:c.1406_1407insCCCT (PHEX)	XP_011543836.1:p.Ser470ProfsTer2
XM_011545536.1:c.1055_1056insCCCT (PHEX)	XP_011543838.1:p.Ser353ProfsTer2
XR_950533.1:n.140+6074_140+6075insGGGA
XR_950534.1:n.127+6074_127+6075insGGGA
NR_073010.2:n.850+6074_850+6075insGGGA (PTCHD1-AS)
XM_011545536.2:c.1055_1056insCCCT (PHEX)	XP_011543838.1:p.Ser353ProfsTer2
XM_017029579.1:c.1406_1407insCCCT (PHEX)	XP_016885068.1:p.Ser470ProfsTer2
XM_024452390.1:c.1871_1872insCCCT (PHEX)	XP_024308158.1:p.Ser625ProfsTer2
XR_001755695.1:n.3002_3003insCCCT (PHEX)
NM_000444.6:c.2162_2163insCCCT (PHEX) MANE Select	NP_000435.3:p.Ser722ProfsTer2
NM_001282754.2:c.2085_2086insCCCT (PHEX)	NP_001269683.1:p.Ter696ProextTer20