Canonical Allele Identifier: CA2739268123

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2825829
• ClinVar RCV Id: RCV003681157

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247875del , CM000685.2:g.22247875del	GRCh38
NC_000023.10:g.22265992del , CM000685.1:g.22265992del	GRCh37
NC_000023.9:g.22175913del	NCBI36
NG_007563.2:g.220072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*110del (PHEX)	ENSP00000508059.1:n.*110del
ENST00000683289.1:c.624+20264del (PHEX)	ENSP00000508195.1:n.624+20264del
ENST00000683917.1:n.956del (PHEX)
ENST00000684356.1:c.726del (PHEX)	ENSP00000507619.1:p.Phe242LeufsTer16
ENST00000684745.1:n.1846del (PHEX)
ENST00000379374.5:c.2172del (PHEX) MANE Select	ENSP00000368682.4:p.Phe724LeufsTer16
ENST00000379374.4:c.2172del (PHEX)	ENSP00000368682.4:p.Phe724LeufsTer16
NM_000444.5:c.2172del (PHEX)	NP_000435.3:p.Phe724LeufsTer16
NM_001282754.1:c.*7del (PHEX)	NP_001269683.1:n.*7del
XM_011545533.1:c.1416del (PHEX)	XP_011543835.1:p.Phe472LeufsTer16
XM_011545534.1:c.1416del (PHEX)	XP_011543836.1:p.Phe472LeufsTer16
XM_011545536.1:c.1065del (PHEX)	XP_011543838.1:p.Phe355LeufsTer16
XR_950533.1:n.140+6066del
XR_950534.1:n.127+6066del
NR_073010.2:n.850+6066del (PTCHD1-AS)
XM_011545536.2:c.1065del (PHEX)	XP_011543838.1:p.Phe355LeufsTer16
XM_017029579.1:c.1416del (PHEX)	XP_016885068.1:p.Phe472LeufsTer16
XM_024452390.1:c.1881del (PHEX)	XP_024308158.1:p.Phe627LeufsTer16
XR_001755695.1:n.3012del (PHEX)
NM_000444.6:c.2172del (PHEX) MANE Select	NP_000435.3:p.Phe724LeufsTer16
NM_001282754.2:c.*7del (PHEX)	NP_001269683.1:n.*7del