Canonical Allele Identifier: CA2573158554

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1394964
• ClinVar RCV Id: RCV001927515
• dbSNP Id: rs2147217224

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247861_22247868del , CM000685.2:g.22247861_22247868del	GRCh38
NC_000023.10:g.22265978_22265985del , CM000685.1:g.22265978_22265985del	GRCh37
NC_000023.9:g.22175899_22175906del	NCBI36
NG_007563.2:g.220058_220065del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*96_*103del (PHEX)	ENSP00000508059.1:n.*96_*103del
ENST00000683289.1:c.624+20250_624+20257del (PHEX)	ENSP00000508195.1:n.624+20250_624+20257de...
ENST00000683917.1:n.942_949del (PHEX)
ENST00000684356.1:c.712_719del (PHEX)	ENSP00000507619.1:p.Ala238Ter
ENST00000684745.1:n.1832_1839del (PHEX)
ENST00000379374.5:c.2158_2165del (PHEX) MANE Select	ENSP00000368682.4:p.Ala720Ter
ENST00000379374.4:c.2158_2165del (PHEX)	ENSP00000368682.4:p.Ala720Ter
NM_000444.5:c.2158_2165del (PHEX)	NP_000435.3:p.Ala720Ter
NM_001282754.1:c.2081_2088del (PHEX)	NP_001269683.1:p.Cys694LeufsTer18
XM_011545533.1:c.1402_1409del (PHEX)	XP_011543835.1:p.Ala468Ter
XM_011545534.1:c.1402_1409del (PHEX)	XP_011543836.1:p.Ala468Ter
XM_011545536.1:c.1051_1058del (PHEX)	XP_011543838.1:p.Ala351Ter
XR_950533.1:n.140+6071_140+6078del
XR_950534.1:n.127+6071_127+6078del
NR_073010.2:n.850+6071_850+6078del (PTCHD1-AS)
XM_011545536.2:c.1051_1058del (PHEX)	XP_011543838.1:p.Ala351Ter
XM_017029579.1:c.1402_1409del (PHEX)	XP_016885068.1:p.Ala468Ter
XM_024452390.1:c.1867_1874del (PHEX)	XP_024308158.1:p.Ala623Ter
XR_001755695.1:n.2998_3005del (PHEX)
NM_000444.6:c.2158_2165del (PHEX) MANE Select	NP_000435.3:p.Ala720Ter
NM_001282754.2:c.2081_2088del (PHEX)	NP_001269683.1:p.Cys694LeufsTer18