Canonical Allele Identifier: CA2573158545

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1452868
• ClinVar RCV Id: RCV002037774
• dbSNP Id: rs2147183196

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226489_22226497del , CM000685.2:g.22226489_22226497del	GRCh38
NC_000023.10:g.22244606_22244614del , CM000685.1:g.22244606_22244614del	GRCh37
NC_000023.9:g.22154527_22154535del	NCBI36
NG_007563.2:g.198686_198694del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.500_508del (PHEX)	ENSP00000508003.1:p.Gly167_Arg169del
ENST00000683162.1:c.500_508del (PHEX)	ENSP00000508059.1:p.Gly167_Arg169del
ENST00000683289.1:c.500_508del (PHEX)	ENSP00000508195.1:p.Gly167_Arg169del
ENST00000683917.1:n.730_738del (PHEX)
ENST00000684356.1:c.500_508del (PHEX)	ENSP00000507619.1:p.Gly167_Arg169del
ENST00000684745.1:n.1620_1628del (PHEX)
ENST00000379374.5:c.1946_1954del (PHEX) MANE Select	ENSP00000368682.4:p.Gly649_Arg651del
ENST00000379374.4:c.1946_1954del (PHEX)	ENSP00000368682.4:p.Gly649_Arg651del
NM_000444.5:c.1946_1954del (PHEX)	NP_000435.3:p.Gly649_Arg651del
NM_001282754.1:c.1946_1954del (PHEX)	NP_001269683.1:p.Gly649_Arg651del
XM_011545533.1:c.1190_1198del (PHEX)	XP_011543835.1:p.Gly397_Arg399del
XM_011545534.1:c.1190_1198del (PHEX)	XP_011543836.1:p.Gly397_Arg399del
XM_011545536.1:c.839_847del (PHEX)	XP_011543838.1:p.Gly280_Arg282del
XR_950534.1:n.326-473_326-465del
NR_073010.2:n.1048+974_1048+982del (PTCHD1-AS)
XM_011545536.2:c.839_847del (PHEX)	XP_011543838.1:p.Gly280_Arg282del
XM_017029579.1:c.1190_1198del (PHEX)	XP_016885068.1:p.Gly397_Arg399del
XM_024452390.1:c.1655_1663del (PHEX)	XP_024308158.1:p.Gly552_Arg554del
XR_001755695.1:n.2786_2794del (PHEX)
NM_000444.6:c.1946_1954del (PHEX) MANE Select	NP_000435.3:p.Gly649_Arg651del
NM_001282754.2:c.1946_1954del (PHEX)	NP_001269683.1:p.Gly649_Arg651del