Canonical Allele Identifier: CA1139667321

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 949842
• ClinVar RCV Id: RCV001221409
• dbSNP Id: rs1936437304

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247867del , CM000685.2:g.22247867del	GRCh38
NC_000023.10:g.22265984del , CM000685.1:g.22265984del	GRCh37
NC_000023.9:g.22175905del	NCBI36
NG_007563.2:g.220064del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*102del (PHEX)	ENSP00000508059.1:n.*102del
ENST00000683289.1:c.624+20256del (PHEX)	ENSP00000508195.1:n.624+20256del
ENST00000683917.1:n.948del (PHEX)
ENST00000684356.1:c.718del (PHEX)	ENSP00000507619.1:p.Ser240ValfsTer18
ENST00000684745.1:n.1838del (PHEX)
ENST00000379374.5:c.2164del (PHEX) MANE Select	ENSP00000368682.4:p.Ser722ValfsTer18
ENST00000379374.4:c.2164del (PHEX)	ENSP00000368682.4:p.Ser722ValfsTer18
NM_000444.5:c.2164del (PHEX)	NP_000435.3:p.Ser722ValfsTer18
NM_001282754.1:c.2087del (PHEX)	NP_001269683.1:p.Ter696CysextTer29
XM_011545533.1:c.1408del (PHEX)	XP_011543835.1:p.Ser470ValfsTer18
XM_011545534.1:c.1408del (PHEX)	XP_011543836.1:p.Ser470ValfsTer18
XM_011545536.1:c.1057del (PHEX)	XP_011543838.1:p.Ser353ValfsTer18
XR_950533.1:n.140+6072del
XR_950534.1:n.127+6072del
NR_073010.2:n.850+6072del (PTCHD1-AS)
XM_011545536.2:c.1057del (PHEX)	XP_011543838.1:p.Ser353ValfsTer18
XM_017029579.1:c.1408del (PHEX)	XP_016885068.1:p.Ser470ValfsTer18
XM_024452390.1:c.1873del (PHEX)	XP_024308158.1:p.Ser625ValfsTer18
XR_001755695.1:n.3004del (PHEX)
NM_000444.6:c.2164del (PHEX) MANE Select	NP_000435.3:p.Ser722ValfsTer18
NM_001282754.2:c.2087del (PHEX)	NP_001269683.1:p.Ter696CysextTer29