Canonical Allele Identifier: CA2697552908

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2742735
• ClinVar RCV Id: RCV003558081

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221709dup , CM000685.2:g.22221709dup	GRCh38
NC_000023.10:g.22239826dup , CM000685.1:g.22239826dup	GRCh37
NC_000023.9:g.22149747dup	NCBI36
NG_007563.2:g.193906dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.419dup (PHEX)	ENSP00000508003.1:p.Tyr140Ter
ENST00000683162.1:c.419dup (PHEX)	ENSP00000508059.1:p.Tyr140Ter
ENST00000683289.1:c.419dup (PHEX)	ENSP00000508195.1:p.Tyr140Ter
ENST00000683917.1:n.649dup (PHEX)
ENST00000684356.1:c.419dup (PHEX)	ENSP00000507619.1:p.Tyr140Ter
ENST00000684745.1:n.1539dup (PHEX)
ENST00000379374.5:c.1865dup (PHEX) MANE Select	ENSP00000368682.4:p.Tyr622Ter
ENST00000379374.4:c.1865dup (PHEX)	ENSP00000368682.4:p.Tyr622Ter
NM_000444.5:c.1865dup (PHEX)	NP_000435.3:p.Tyr622Ter
NM_001282754.1:c.1865dup (PHEX)	NP_001269683.1:p.Tyr622Ter
XM_011545533.1:c.1109dup (PHEX)	XP_011543835.1:p.Tyr370Ter
XM_011545534.1:c.1109dup (PHEX)	XP_011543836.1:p.Tyr370Ter
XM_011545536.1:c.758dup (PHEX)	XP_011543838.1:p.Tyr253Ter
NR_073010.2:n.1048+5761dup (PTCHD1-AS)
XM_011545536.2:c.758dup (PHEX)	XP_011543838.1:p.Tyr253Ter
XM_017029579.1:c.1109dup (PHEX)	XP_016885068.1:p.Tyr370Ter
XM_024452390.1:c.1574dup (PHEX)	XP_024308158.1:p.Tyr525Ter
XR_001755695.1:n.2705dup (PHEX)
NM_000444.6:c.1865dup (PHEX) MANE Select	NP_000435.3:p.Tyr622Ter
NM_001282754.2:c.1865dup (PHEX)	NP_001269683.1:p.Tyr622Ter