Canonical Allele Identifier: CA10368373
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

dbSNP Id: rs68100043
ExAC: X:22244528 A / ATT
gnomAD v2: X-22244528-A-ATT
gnomAD v3: X-22226411-A-ATT
gnomAD v4: X-22226411-A-ATT
MyVariant Identifiers: chrX:g.22244531_22244532insTT (hg19) chrX:g.22244530_22244531insTT (hg19) chrX:g.22244529_22244530insTT (hg19) chrX:g.22244528_22244529insTT (hg19) chrX:g.22226413_22226414insTT (hg38) chrX:g.22226412_22226413insTT (hg38) chrX:g.22226411_22226412insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226422_22226423dup , CM000685.2:g.22226422_22226423dup GRCh38
NC_000023.10:g.22244539_22244540dup , CM000685.1:g.22244539_22244540dup GRCh37
NC_000023.9:g.22154460_22154461dup NCBI36
NG_007563.2:g.198619_198620dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.454-21_454-20dup (PHEX) ENSP00000508003.1:n.454-21_454-20dup
ENST00000683162.1:c.454-21_454-20dup (PHEX) ENSP00000508059.1:n.454-21_454-20dup
ENST00000683289.1:c.454-21_454-20dup (PHEX) ENSP00000508195.1:n.454-21_454-20dup
ENST00000683917.1:n.684-21_684-20dup (PHEX)
ENST00000684356.1:c.454-21_454-20dup (PHEX) ENSP00000507619.1:n.454-21_454-20dup
ENST00000684745.1:n.1574-21_1574-20dup (PHEX)
ENST00000379374.5:c.1900-21_1900-20dup (PHEX) MANE Select ENSP00000368682.4:n.1900-21_1900-20dup
ENST00000379374.4:c.1900-21_1900-20dup (PHEX) ENSP00000368682.4:n.1900-21_1900-20dup
NM_000444.5:c.1900-21_1900-20dup (PHEX) NP_000435.3:n.1900-21_1900-20dup
NM_001282754.1:c.1900-21_1900-20dup (PHEX) NP_001269683.1:n.1900-21_1900-20dup
XM_011545533.1:c.1144-21_1144-20dup (PHEX) XP_011543835.1:n.1144-21_1144-20dup
XM_011545534.1:c.1144-21_1144-20dup (PHEX) XP_011543836.1:n.1144-21_1144-20dup
XM_011545536.1:c.793-21_793-20dup (PHEX) XP_011543838.1:n.793-21_793-20dup
XR_950534.1:n.326-390_326-389dup
NR_073010.2:n.1048+1057_1048+1058dup (PTCHD1-AS)
XM_011545536.2:c.793-21_793-20dup (PHEX) XP_011543838.1:n.793-21_793-20dup
XM_017029579.1:c.1144-21_1144-20dup (PHEX) XP_016885068.1:n.1144-21_1144-20dup
XM_024452390.1:c.1609-21_1609-20dup (PHEX) XP_024308158.1:n.1609-21_1609-20dup
XR_001755695.1:n.2740-21_2740-20dup (PHEX)
NM_000444.6:c.1900-21_1900-20dup (PHEX) MANE Select NP_000435.3:n.1900-21_1900-20dup
NM_001282754.2:c.1900-21_1900-20dup (PHEX) NP_001269683.1:n.1900-21_1900-20dup
Search 100 bp 5'
Search 100 bp 3'