Canonical Allele Identifier: CA2419211413
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1935502899

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226414_22226415insC , CM000685.2:g.22226414_22226415insC GRCh38
NC_000023.10:g.22244531_22244532insC , CM000685.1:g.22244531_22244532insC GRCh37
NC_000023.9:g.22154452_22154453insC NCBI36
NG_007563.2:g.198611_198612insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.454-29_454-28insC (PHEX) ENSP00000508003.1:n.454-29_454-28insC
ENST00000683162.1:c.454-29_454-28insC (PHEX) ENSP00000508059.1:n.454-29_454-28insC
ENST00000683289.1:c.454-29_454-28insC (PHEX) ENSP00000508195.1:n.454-29_454-28insC
ENST00000683917.1:n.684-29_684-28insC (PHEX)
ENST00000684356.1:c.454-29_454-28insC (PHEX) ENSP00000507619.1:n.454-29_454-28insC
ENST00000684745.1:n.1574-29_1574-28insC (PHEX)
ENST00000379374.5:c.1900-29_1900-28insC (PHEX) MANE Select ENSP00000368682.4:n.1900-29_1900-28insC
ENST00000379374.4:c.1900-29_1900-28insC (PHEX) ENSP00000368682.4:n.1900-29_1900-28insC
NM_000444.5:c.1900-29_1900-28insC (PHEX) NP_000435.3:n.1900-29_1900-28insC
NM_001282754.1:c.1900-29_1900-28insC (PHEX) NP_001269683.1:n.1900-29_1900-28insC
XM_011545533.1:c.1144-29_1144-28insC (PHEX) XP_011543835.1:n.1144-29_1144-28insC
XM_011545534.1:c.1144-29_1144-28insC (PHEX) XP_011543836.1:n.1144-29_1144-28insC
XM_011545536.1:c.793-29_793-28insC (PHEX) XP_011543838.1:n.793-29_793-28insC
XR_950534.1:n.326-392_326-391insG
NR_073010.2:n.1048+1055_1048+1056insG (PTCHD1-AS)
XM_011545536.2:c.793-29_793-28insC (PHEX) XP_011543838.1:n.793-29_793-28insC
XM_017029579.1:c.1144-29_1144-28insC (PHEX) XP_016885068.1:n.1144-29_1144-28insC
XM_024452390.1:c.1609-29_1609-28insC (PHEX) XP_024308158.1:n.1609-29_1609-28insC
XR_001755695.1:n.2740-29_2740-28insC (PHEX)
NM_000444.6:c.1900-29_1900-28insC (PHEX) MANE Select NP_000435.3:n.1900-29_1900-28insC
NM_001282754.2:c.1900-29_1900-28insC (PHEX) NP_001269683.1:n.1900-29_1900-28insC