Canonical Allele Identifier: CA2573158553

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1454242
• ClinVar RCV Id: RCV001939440
• dbSNP Id: rs2147217220

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247860_22247863dup , CM000685.2:g.22247860_22247863dup	GRCh38
NC_000023.10:g.22265977_22265980dup , CM000685.1:g.22265977_22265980dup	GRCh37
NC_000023.9:g.22175898_22175901dup	NCBI36
NG_007563.2:g.220057_220060dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*95_*98dup (PHEX)	ENSP00000508059.1:n.*95_*98dup
ENST00000683289.1:c.624+20249_624+20252dup (PHEX)	ENSP00000508195.1:n.624+20249_624+20252du...
ENST00000683917.1:n.941_944dup (PHEX)
ENST00000684356.1:c.711_714dup (PHEX)	ENSP00000507619.1:p.Ile239CysfsTer3
ENST00000684745.1:n.1831_1834dup (PHEX)
ENST00000379374.5:c.2157_2160dup (PHEX) MANE Select	ENSP00000368682.4:p.Ile721CysfsTer3
ENST00000379374.4:c.2157_2160dup (PHEX)	ENSP00000368682.4:p.Ile721CysfsTer3
NM_000444.5:c.2157_2160dup (PHEX)	NP_000435.3:p.Ile721CysfsTer3
NM_001282754.1:c.2080_2083dup (PHEX)	NP_001269683.1:p.Asn695MetfsTer21
XM_011545533.1:c.1401_1404dup (PHEX)	XP_011543835.1:p.Ile469CysfsTer3
XM_011545534.1:c.1401_1404dup (PHEX)	XP_011543836.1:p.Ile469CysfsTer3
XM_011545536.1:c.1050_1053dup (PHEX)	XP_011543838.1:p.Ile352CysfsTer3
XR_950533.1:n.140+6076_140+6079dup
XR_950534.1:n.127+6076_127+6079dup
NR_073010.2:n.850+6076_850+6079dup (PTCHD1-AS)
XM_011545536.2:c.1050_1053dup (PHEX)	XP_011543838.1:p.Ile352CysfsTer3
XM_017029579.1:c.1401_1404dup (PHEX)	XP_016885068.1:p.Ile469CysfsTer3
XM_024452390.1:c.1866_1869dup (PHEX)	XP_024308158.1:p.Ile624CysfsTer3
XR_001755695.1:n.2997_3000dup (PHEX)
NM_000444.6:c.2157_2160dup (PHEX) MANE Select	NP_000435.3:p.Ile721CysfsTer3
NM_001282754.2:c.2080_2083dup (PHEX)	NP_001269683.1:p.Asn695MetfsTer21