Canonical Allele Identifier: CA2499226581

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1070461
• ClinVar RCV Id: RCV001382604
• dbSNP Id: rs2147174436

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221656del , CM000685.2:g.22221656del	GRCh38
NC_000023.10:g.22239773del , CM000685.1:g.22239773del	GRCh37
NC_000023.9:g.22149694del	NCBI36
NG_007563.2:g.193853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.366del (PHEX)	ENSP00000508003.1:p.Thr123LeufsTer14
ENST00000683162.1:c.366del (PHEX)	ENSP00000508059.1:p.Thr123LeufsTer14
ENST00000683289.1:c.366del (PHEX)	ENSP00000508195.1:p.Thr123LeufsTer14
ENST00000683917.1:n.596del (PHEX)
ENST00000684356.1:c.366del (PHEX)	ENSP00000507619.1:p.Thr123LeufsTer14
ENST00000684745.1:n.1486del (PHEX)
ENST00000379374.5:c.1812del (PHEX) MANE Select	ENSP00000368682.4:p.Thr605LeufsTer14
ENST00000379374.4:c.1812del (PHEX)	ENSP00000368682.4:p.Thr605LeufsTer14
NM_000444.5:c.1812del (PHEX)	NP_000435.3:p.Thr605LeufsTer14
NM_001282754.1:c.1812del (PHEX)	NP_001269683.1:p.Thr605LeufsTer14
XM_011545533.1:c.1056del (PHEX)	XP_011543835.1:p.Thr353LeufsTer14
XM_011545534.1:c.1056del (PHEX)	XP_011543836.1:p.Thr353LeufsTer14
XM_011545536.1:c.705del (PHEX)	XP_011543838.1:p.Thr236LeufsTer14
NR_073010.2:n.1048+5814del (PTCHD1-AS)
XM_011545536.2:c.705del (PHEX)	XP_011543838.1:p.Thr236LeufsTer14
XM_017029579.1:c.1056del (PHEX)	XP_016885068.1:p.Thr353LeufsTer14
XM_024452390.1:c.1521del (PHEX)	XP_024308158.1:p.Thr508LeufsTer14
XR_001755695.1:n.2652del (PHEX)
NM_000444.6:c.1812del (PHEX) MANE Select	NP_000435.3:p.Thr605LeufsTer14
NM_001282754.2:c.1812del (PHEX)	NP_001269683.1:p.Thr605LeufsTer14