Canonical Allele Identifier: CA2419211404
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1935501550

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226411_22226414dup , CM000685.2:g.22226411_22226414dup GRCh38
NC_000023.10:g.22244528_22244531dup , CM000685.1:g.22244528_22244531dup GRCh37
NC_000023.9:g.22154449_22154452dup NCBI36
NG_007563.2:g.198608_198611dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.454-32_454-29dup (PHEX) ENSP00000508003.1:n.454-32_454-29dup
ENST00000683162.1:c.454-32_454-29dup (PHEX) ENSP00000508059.1:n.454-32_454-29dup
ENST00000683289.1:c.454-32_454-29dup (PHEX) ENSP00000508195.1:n.454-32_454-29dup
ENST00000683917.1:n.684-32_684-29dup (PHEX)
ENST00000684356.1:c.454-32_454-29dup (PHEX) ENSP00000507619.1:n.454-32_454-29dup
ENST00000684745.1:n.1574-32_1574-29dup (PHEX)
ENST00000379374.5:c.1900-32_1900-29dup (PHEX) MANE Select ENSP00000368682.4:n.1900-32_1900-29dup
ENST00000379374.4:c.1900-32_1900-29dup (PHEX) ENSP00000368682.4:n.1900-32_1900-29dup
NM_000444.5:c.1900-32_1900-29dup (PHEX) NP_000435.3:n.1900-32_1900-29dup
NM_001282754.1:c.1900-32_1900-29dup (PHEX) NP_001269683.1:n.1900-32_1900-29dup
XM_011545533.1:c.1144-32_1144-29dup (PHEX) XP_011543835.1:n.1144-32_1144-29dup
XM_011545534.1:c.1144-32_1144-29dup (PHEX) XP_011543836.1:n.1144-32_1144-29dup
XM_011545536.1:c.793-32_793-29dup (PHEX) XP_011543838.1:n.793-32_793-29dup
XR_950534.1:n.326-391_326-388dup
NR_073010.2:n.1048+1056_1048+1059dup (PTCHD1-AS)
XM_011545536.2:c.793-32_793-29dup (PHEX) XP_011543838.1:n.793-32_793-29dup
XM_017029579.1:c.1144-32_1144-29dup (PHEX) XP_016885068.1:n.1144-32_1144-29dup
XM_024452390.1:c.1609-32_1609-29dup (PHEX) XP_024308158.1:n.1609-32_1609-29dup
XR_001755695.1:n.2740-32_2740-29dup (PHEX)
NM_000444.6:c.1900-32_1900-29dup (PHEX) MANE Select NP_000435.3:n.1900-32_1900-29dup
NM_001282754.2:c.1900-32_1900-29dup (PHEX) NP_001269683.1:n.1900-32_1900-29dup