Canonical Allele Identifier: CA16621333
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 420129
ClinVar RCV Id: RCV000484521
dbSNP Id: rs1064794305

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22219100_22219103del , CM000685.2:g.22219100_22219103del GRCh38
NC_000023.10:g.22237217_22237220del , CM000685.1:g.22237217_22237220del GRCh37
NC_000023.9:g.22147138_22147141del NCBI36
NG_007563.2:g.191297_191300del

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.319_322del (PHEX) ENSP00000508003.1:p.Asn107ValfsTer29
ENST00000683162.1:c.319_322del (PHEX) ENSP00000508059.1:p.Asn107ValfsTer29
ENST00000683289.1:c.319_322del (PHEX) ENSP00000508195.1:p.Asn107ValfsTer29
ENST00000683917.1:n.549_552del (PHEX)
ENST00000684356.1:c.319_322del (PHEX) ENSP00000507619.1:p.Asn107ValfsTer29
ENST00000684745.1:n.1439_1442del (PHEX)
ENST00000379374.5:c.1765_1768del (PHEX) MANE Select ENSP00000368682.4:p.Asn589ValfsTer29
ENST00000379374.4:c.1765_1768del (PHEX) ENSP00000368682.4:p.Asn589ValfsTer29
NM_000444.5:c.1765_1768del (PHEX) NP_000435.3:p.Asn589ValfsTer29
NM_001282754.1:c.1765_1768del (PHEX) NP_001269683.1:p.Asn589ValfsTer29
XM_011545533.1:c.1009_1012del (PHEX) XP_011543835.1:p.Asn337ValfsTer29
XM_011545534.1:c.1009_1012del (PHEX) XP_011543836.1:p.Asn337ValfsTer29
XM_011545536.1:c.658_661del (PHEX) XP_011543838.1:p.Asn220ValfsTer29
NR_073010.2:n.1048+8367_1048+8370del (PTCHD1-AS)
XM_011545536.2:c.658_661del (PHEX) XP_011543838.1:p.Asn220ValfsTer29
XM_017029579.1:c.1009_1012del (PHEX) XP_016885068.1:p.Asn337ValfsTer29
XM_024452390.1:c.1474_1477del (PHEX) XP_024308158.1:p.Asn492ValfsTer29
XR_001755695.1:n.2605_2608del (PHEX)
NM_000444.6:c.1765_1768del (PHEX) MANE Select NP_000435.3:p.Asn589ValfsTer29
NM_001282754.2:c.1765_1768del (PHEX) NP_001269683.1:p.Asn589ValfsTer29