Canonical Allele Identifier: CA2499226593

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1070073
• ClinVar RCV Id: RCV001382100
• dbSNP Id: rs2147217259

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247868_22247887dup , CM000685.2:g.22247868_22247887dup	GRCh38
NC_000023.10:g.22265985_22266004dup , CM000685.1:g.22265985_22266004dup	GRCh37
NC_000023.9:g.22175906_22175925dup	NCBI36
NG_007563.2:g.220065_220084dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*103_*122dup (PHEX)	ENSP00000508059.1:n.*103_*122dup
ENST00000683289.1:c.624+20257_624+20276dup (PHEX)	ENSP00000508195.1:n.624+20257_624+20276du...
ENST00000683917.1:n.949_968dup (PHEX)
ENST00000684356.1:c.719_738dup (PHEX)	ENSP00000507619.1:p.Lys247ValfsTer18
ENST00000684745.1:n.1839_1858dup (PHEX)
ENST00000379374.5:c.2165_2184dup (PHEX) MANE Select	ENSP00000368682.4:p.Lys729ValfsTer18
ENST00000379374.4:c.2165_2184dup (PHEX)	ENSP00000368682.4:p.Lys729ValfsTer18
NM_000444.5:c.2165_2184dup (PHEX)	NP_000435.3:p.Lys729ValfsTer18
NM_001282754.1:c.2088_*19dup (PHEX)	NP_001269683.1:n.2088_*19dup
XM_011545533.1:c.1409_1428dup (PHEX)	XP_011543835.1:p.Lys477ValfsTer18
XM_011545534.1:c.1409_1428dup (PHEX)	XP_011543836.1:p.Lys477ValfsTer18
XM_011545536.1:c.1058_1077dup (PHEX)	XP_011543838.1:p.Lys360ValfsTer18
XR_950533.1:n.140+6052_140+6071dup
XR_950534.1:n.127+6052_127+6071dup
NR_073010.2:n.850+6052_850+6071dup (PTCHD1-AS)
XM_011545536.2:c.1058_1077dup (PHEX)	XP_011543838.1:p.Lys360ValfsTer18
XM_017029579.1:c.1409_1428dup (PHEX)	XP_016885068.1:p.Lys477ValfsTer18
XM_024452390.1:c.1874_1893dup (PHEX)	XP_024308158.1:p.Lys632ValfsTer18
XR_001755695.1:n.3005_3024dup (PHEX)
NM_000444.6:c.2165_2184dup (PHEX) MANE Select	NP_000435.3:p.Lys729ValfsTer18
NM_001282754.2:c.2088_*19dup (PHEX)	NP_001269683.1:n.2088_*19dup