Canonical Allele Identifier: CA16043313

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 372466
• ClinVar RCV Id: RCV000413761
• dbSNP Id: rs1057517800
• MyVariant Identifiers: chrX:g.22266064_22266065del (hg19) ; chrX:g.22247947_22247948del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247947_22247948del , CM000685.2:g.22247947_22247948del	GRCh38
NC_000023.10:g.22266064_22266065del , CM000685.1:g.22266064_22266065del	GRCh37
NC_000023.9:g.22175985_22175986del	NCBI36
NG_007563.2:g.220144_220145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*182_*183del (PHEX)	ENSP00000508059.1:n.*182_*183del
ENST00000683289.1:c.624+20336_624+20337del (PHEX)	ENSP00000508195.1:n.624+20336_624+20337del
ENST00000683917.1:n.1028_1029del (PHEX)
ENST00000684356.1:c.798_799del (PHEX)	ENSP00000507619.1:p.Trp267ValfsTer?
ENST00000684745.1:n.1918_1919del (PHEX)
ENST00000379374.5:c.2244_2245del (PHEX) MANE Select	ENSP00000368682.4:p.Trp749ValfsTer?
ENST00000379374.4:c.2244_2245del (PHEX)	ENSP00000368682.4:p.Trp749ValfsTer?
NM_000444.5:c.2244_2245del (PHEX)	NP_000435.3:p.Trp749ValfsTer?
NM_001282754.1:c.*79_*80del (PHEX)	NP_001269683.1:n.*79_*80del
XM_011545533.1:c.1488_1489del (PHEX)	XP_011543835.1:p.Trp497ValfsTer?
XM_011545534.1:c.1488_1489del (PHEX)	XP_011543836.1:p.Trp497ValfsTer?
XM_011545536.1:c.1137_1138del (PHEX)	XP_011543838.1:p.Trp380ValfsTer?
XR_950533.1:n.140+5993_140+5994del
XR_950534.1:n.127+5993_127+5994del
NR_073010.2:n.850+5993_850+5994del (PTCHD1-AS)
XM_011545536.2:c.1137_1138del (PHEX)	XP_011543838.1:p.Trp380ValfsTer?
XM_017029579.1:c.1488_1489del (PHEX)	XP_016885068.1:p.Trp497ValfsTer?
XM_024452390.1:c.1953_1954del (PHEX)	XP_024308158.1:p.Trp652ValfsTer?
XR_001755695.1:n.3084_3085del (PHEX)
NM_000444.6:c.2244_2245del (PHEX) MANE Select	NP_000435.3:p.Trp749ValfsTer?
NM_001282754.2:c.*79_*80del (PHEX)	NP_001269683.1:n.*79_*80del