Canonical Allele Identifier: CA2499226583

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1073483
• ClinVar RCV Id: RCV001386510
• dbSNP Id: rs2147174479

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221670_22221674del , CM000685.2:g.22221670_22221674del	GRCh38
NC_000023.10:g.22239787_22239791del , CM000685.1:g.22239787_22239791del	GRCh37
NC_000023.9:g.22149708_22149712del	NCBI36
NG_007563.2:g.193867_193871del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.380_384del (PHEX)	ENSP00000508003.1:p.Glu127ValfsTer2
ENST00000683162.1:c.380_384del (PHEX)	ENSP00000508059.1:p.Glu127ValfsTer2
ENST00000683289.1:c.380_384del (PHEX)	ENSP00000508195.1:p.Glu127ValfsTer2
ENST00000683917.1:n.610_614del (PHEX)
ENST00000684356.1:c.380_384del (PHEX)	ENSP00000507619.1:p.Glu127ValfsTer2
ENST00000684745.1:n.1500_1504del (PHEX)
ENST00000379374.5:c.1826_1830del (PHEX) MANE Select	ENSP00000368682.4:p.Glu609ValfsTer2
ENST00000379374.4:c.1826_1830del (PHEX)	ENSP00000368682.4:p.Glu609ValfsTer2
NM_000444.5:c.1826_1830del (PHEX)	NP_000435.3:p.Glu609ValfsTer2
NM_001282754.1:c.1826_1830del (PHEX)	NP_001269683.1:p.Glu609ValfsTer2
XM_011545533.1:c.1070_1074del (PHEX)	XP_011543835.1:p.Glu357ValfsTer2
XM_011545534.1:c.1070_1074del (PHEX)	XP_011543836.1:p.Glu357ValfsTer2
XM_011545536.1:c.719_723del (PHEX)	XP_011543838.1:p.Glu240ValfsTer2
NR_073010.2:n.1048+5799_1048+5803del (PTCHD1-AS)
XM_011545536.2:c.719_723del (PHEX)	XP_011543838.1:p.Glu240ValfsTer2
XM_017029579.1:c.1070_1074del (PHEX)	XP_016885068.1:p.Glu357ValfsTer2
XM_024452390.1:c.1535_1539del (PHEX)	XP_024308158.1:p.Glu512ValfsTer2
XR_001755695.1:n.2666_2670del (PHEX)
NM_000444.6:c.1826_1830del (PHEX) MANE Select	NP_000435.3:p.Glu609ValfsTer2
NM_001282754.2:c.1826_1830del (PHEX)	NP_001269683.1:p.Glu609ValfsTer2