Canonical Allele Identifier: CA2739268114

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2809767
• ClinVar RCV Id: RCV003680111

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22212933_22212934del , CM000685.2:g.22212933_22212934del	GRCh38
NC_000023.10:g.22231050_22231051del , CM000685.1:g.22231050_22231051del	GRCh37
NC_000023.9:g.22140971_22140972del	NCBI36
NG_007563.2:g.185130_185131del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.229_230del (PHEX)	ENSP00000508003.1:p.Phe77LeufsTer22
ENST00000683162.1:c.229_230del (PHEX)	ENSP00000508059.1:p.Phe77LeufsTer22
ENST00000683289.1:c.229_230del (PHEX)	ENSP00000508195.1:p.Phe77LeufsTer22
ENST00000683917.1:n.459_460del (PHEX)
ENST00000684356.1:c.229_230del (PHEX)	ENSP00000507619.1:p.Phe77LeufsTer22
ENST00000684745.1:n.1349_1350del (PHEX)
ENST00000379374.5:c.1675_1676del (PHEX) MANE Select	ENSP00000368682.4:p.Phe559LeufsTer22
ENST00000379374.4:c.1675_1676del (PHEX)	ENSP00000368682.4:p.Phe559LeufsTer22
NM_000444.5:c.1675_1676del (PHEX)	NP_000435.3:p.Phe559LeufsTer22
NM_001282754.1:c.1675_1676del (PHEX)	NP_001269683.1:p.Phe559LeufsTer22
XM_011545533.1:c.919_920del (PHEX)	XP_011543835.1:p.Phe307LeufsTer22
XM_011545534.1:c.919_920del (PHEX)	XP_011543836.1:p.Phe307LeufsTer22
XM_011545536.1:c.568_569del (PHEX)	XP_011543838.1:p.Phe190LeufsTer22
NR_073010.2:n.1049-10163_1049-10162del (PTCHD1-AS)
XM_011545536.2:c.568_569del (PHEX)	XP_011543838.1:p.Phe190LeufsTer22
XM_017029579.1:c.919_920del (PHEX)	XP_016885068.1:p.Phe307LeufsTer22
XM_024452390.1:c.1384_1385del (PHEX)	XP_024308158.1:p.Phe462LeufsTer22
XR_001755695.1:n.2515_2516del (PHEX)
NM_000444.6:c.1675_1676del (PHEX) MANE Select	NP_000435.3:p.Phe559LeufsTer22
NM_001282754.2:c.1675_1676del (PHEX)	NP_001269683.1:p.Phe559LeufsTer22