Canonical Allele Identifier: CA1139667322

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 947348
• ClinVar RCV Id: RCV001218409
• dbSNP Id: rs1936438118

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247892del , CM000685.2:g.22247892del	GRCh38
NC_000023.10:g.22266009del , CM000685.1:g.22266009del	GRCh37
NC_000023.9:g.22175930del	NCBI36
NG_007563.2:g.220089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*127del (PHEX)	ENSP00000508059.1:n.*127del
ENST00000683289.1:c.624+20281del (PHEX)	ENSP00000508195.1:n.624+20281del
ENST00000683917.1:n.973del (PHEX)
ENST00000684356.1:c.743del (PHEX)	ENSP00000507619.1:p.Ala248ValfsTer10
ENST00000684745.1:n.1863del (PHEX)
ENST00000379374.5:c.2189del (PHEX) MANE Select	ENSP00000368682.4:p.Ala730ValfsTer10
ENST00000379374.4:c.2189del (PHEX)	ENSP00000368682.4:p.Ala730ValfsTer10
NM_000444.5:c.2189del (PHEX)	NP_000435.3:p.Ala730ValfsTer10
NM_001282754.1:c.*24del (PHEX)	NP_001269683.1:n.*24del
XM_011545533.1:c.1433del (PHEX)	XP_011543835.1:p.Ala478ValfsTer10
XM_011545534.1:c.1433del (PHEX)	XP_011543836.1:p.Ala478ValfsTer10
XM_011545536.1:c.1082del (PHEX)	XP_011543838.1:p.Ala361ValfsTer10
XR_950533.1:n.140+6047del
XR_950534.1:n.127+6047del
NR_073010.2:n.850+6047del (PTCHD1-AS)
XM_011545536.2:c.1082del (PHEX)	XP_011543838.1:p.Ala361ValfsTer10
XM_017029579.1:c.1433del (PHEX)	XP_016885068.1:p.Ala478ValfsTer10
XM_024452390.1:c.1898del (PHEX)	XP_024308158.1:p.Ala633ValfsTer10
XR_001755695.1:n.3029del (PHEX)
NM_000444.6:c.2189del (PHEX) MANE Select	NP_000435.3:p.Ala730ValfsTer10
NM_001282754.2:c.*24del (PHEX)	NP_001269683.1:n.*24del