Canonical Allele Identifier: CA2579572336

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2134169
• ClinVar RCV Id: RCV003044804

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22219081del , CM000685.2:g.22219081del	GRCh38
NC_000023.10:g.22237198del , CM000685.1:g.22237198del	GRCh37
NC_000023.9:g.22147119del	NCBI36
NG_007563.2:g.191278del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.300del (PHEX)	ENSP00000508003.1:p.Phe100LeufsTer?
ENST00000683162.1:c.300del (PHEX)	ENSP00000508059.1:p.Phe100LeufsTer?
ENST00000683289.1:c.300del (PHEX)	ENSP00000508195.1:p.Phe100LeufsTer?
ENST00000683917.1:n.530del (PHEX)
ENST00000684356.1:c.300del (PHEX)	ENSP00000507619.1:p.Phe100LeufsTer?
ENST00000684745.1:n.1420del (PHEX)
ENST00000379374.5:c.1746del (PHEX) MANE Select	ENSP00000368682.4:p.Phe582LeufsTer?
ENST00000379374.4:c.1746del (PHEX)	ENSP00000368682.4:p.Phe582LeufsTer?
NM_000444.5:c.1746del (PHEX)	NP_000435.3:p.Phe582LeufsTer?
NM_001282754.1:c.1746del (PHEX)	NP_001269683.1:p.Phe582LeufsTer?
XM_011545533.1:c.990del (PHEX)	XP_011543835.1:p.Phe330LeufsTer?
XM_011545534.1:c.990del (PHEX)	XP_011543836.1:p.Phe330LeufsTer?
XM_011545536.1:c.639del (PHEX)	XP_011543838.1:p.Phe213LeufsTer?
NR_073010.2:n.1048+8391del (PTCHD1-AS)
XM_011545536.2:c.639del (PHEX)	XP_011543838.1:p.Phe213LeufsTer?
XM_017029579.1:c.990del (PHEX)	XP_016885068.1:p.Phe330LeufsTer?
XM_024452390.1:c.1455del (PHEX)	XP_024308158.1:p.Phe485LeufsTer?
XR_001755695.1:n.2586del (PHEX)
NM_000444.6:c.1746del (PHEX) MANE Select	NP_000435.3:p.Phe582LeufsTer?
NM_001282754.2:c.1746del (PHEX)	NP_001269683.1:p.Phe582LeufsTer?