Canonical Allele Identifier: CA2499226584

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1073484
• ClinVar RCV Id: RCV001386511
• dbSNP Id: rs886041366

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221687del , CM000685.2:g.22221687del	GRCh38
NC_000023.10:g.22239804del , CM000685.1:g.22239804del	GRCh37
NC_000023.9:g.22149725del	NCBI36
NG_007563.2:g.193884del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.397del (PHEX)	ENSP00000508003.1:p.Thr133GlnfsTer4
ENST00000683162.1:c.397del (PHEX)	ENSP00000508059.1:p.Thr133GlnfsTer4
ENST00000683289.1:c.397del (PHEX)	ENSP00000508195.1:p.Thr133GlnfsTer4
ENST00000683917.1:n.627del (PHEX)
ENST00000684356.1:c.397del (PHEX)	ENSP00000507619.1:p.Thr133GlnfsTer4
ENST00000684745.1:n.1517del (PHEX)
ENST00000379374.5:c.1843del (PHEX) MANE Select	ENSP00000368682.4:p.Thr615GlnfsTer4
ENST00000379374.4:c.1843del (PHEX)	ENSP00000368682.4:p.Thr615GlnfsTer4
NM_000444.5:c.1843del (PHEX)	NP_000435.3:p.Thr615GlnfsTer4
NM_001282754.1:c.1843del (PHEX)	NP_001269683.1:p.Thr615GlnfsTer4
XM_011545533.1:c.1087del (PHEX)	XP_011543835.1:p.Thr363GlnfsTer4
XM_011545534.1:c.1087del (PHEX)	XP_011543836.1:p.Thr363GlnfsTer4
XM_011545536.1:c.736del (PHEX)	XP_011543838.1:p.Thr246GlnfsTer4
NR_073010.2:n.1048+5788del (PTCHD1-AS)
XM_011545536.2:c.736del (PHEX)	XP_011543838.1:p.Thr246GlnfsTer4
XM_017029579.1:c.1087del (PHEX)	XP_016885068.1:p.Thr363GlnfsTer4
XM_024452390.1:c.1552del (PHEX)	XP_024308158.1:p.Thr518GlnfsTer4
XR_001755695.1:n.2683del (PHEX)
NM_000444.6:c.1843del (PHEX) MANE Select	NP_000435.3:p.Thr615GlnfsTer4
NM_001282754.2:c.1843del (PHEX)	NP_001269683.1:p.Thr615GlnfsTer4