Canonical Allele Identifier: CA327532450
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

dbSNP Id: rs373442301
gnomAD v3: X-22226602-GAGTT-G
gnomAD v4: X-22226602-GAGTT-G
MyVariant Identifiers: chrX:g.22244720_22244723del (hg19) chrX:g.22226603_22226606del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226613_22226616del , CM000685.2:g.22226613_22226616del GRCh38
NC_000023.10:g.22244730_22244733del , CM000685.1:g.22244730_22244733del GRCh37
NC_000023.9:g.22154651_22154654del NCBI36
NG_007563.2:g.198810_198813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683162.1:c.519+105_519+108del (PHEX) ENSP00000508059.1:n.519+105_519+108del
ENST00000683289.1:c.519+105_519+108del (PHEX) ENSP00000508195.1:n.519+105_519+108del
ENST00000683917.1:n.749+105_749+108del (PHEX)
ENST00000684356.1:c.519+105_519+108del (PHEX) ENSP00000507619.1:n.519+105_519+108del
ENST00000684745.1:n.1639+105_1639+108del (PHEX)
ENST00000379374.5:c.1965+105_1965+108del (PHEX) MANE Select ENSP00000368682.4:n.1965+105_1965+108del
ENST00000379374.4:c.1965+105_1965+108del (PHEX) ENSP00000368682.4:n.1965+105_1965+108del
NM_000444.5:c.1965+105_1965+108del (PHEX) NP_000435.3:n.1965+105_1965+108del
NM_001282754.1:c.1965+105_1965+108del (PHEX) NP_001269683.1:n.1965+105_1965+108del
XM_011545533.1:c.1209+105_1209+108del (PHEX) XP_011543835.1:n.1209+105_1209+108del
XM_011545534.1:c.1209+105_1209+108del (PHEX) XP_011543836.1:n.1209+105_1209+108del
XM_011545536.1:c.858+105_858+108del (PHEX) XP_011543838.1:n.858+105_858+108del
XR_950534.1:n.326-583_326-580del
NR_073010.2:n.1048+864_1048+867del (PTCHD1-AS)
XM_011545536.2:c.858+105_858+108del (PHEX) XP_011543838.1:n.858+105_858+108del
XM_017029579.1:c.1209+105_1209+108del (PHEX) XP_016885068.1:n.1209+105_1209+108del
XM_024452390.1:c.1674+105_1674+108del (PHEX) XP_024308158.1:n.1674+105_1674+108del
XR_001755695.1:n.2805+105_2805+108del (PHEX)
NM_000444.6:c.1965+105_1965+108del (PHEX) MANE Select NP_000435.3:n.1965+105_1965+108del
NM_001282754.2:c.1965+105_1965+108del (PHEX) NP_001269683.1:n.1965+105_1965+108del
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