Canonical Allele Identifier: CA2695231806
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226495_22226503dup , CM000685.2:g.22226495_22226503dup GRCh38
NC_000023.10:g.22244612_22244620dup , CM000685.1:g.22244612_22244620dup GRCh37
NC_000023.9:g.22154533_22154541dup NCBI36
NG_007563.2:g.198692_198700dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.506_514dup (PHEX) ENSP00000508003.1:p.Ala171_Phe172insTrpGl...
ENST00000683162.1:c.506_514dup (PHEX) ENSP00000508059.1:p.Ala171_Phe172insTrpGl...
ENST00000683289.1:c.506_514dup (PHEX) ENSP00000508195.1:p.Ala171_Phe172insTrpGl...
ENST00000683917.1:n.736_744dup (PHEX)
ENST00000684356.1:c.506_514dup (PHEX) ENSP00000507619.1:p.Ala171_Phe172insTrpGl...
ENST00000684745.1:n.1626_1634dup (PHEX)
ENST00000379374.5:c.1952_1960dup (PHEX) MANE Select ENSP00000368682.4:p.Ala653_Phe654insTrpGl...
ENST00000379374.4:c.1952_1960dup (PHEX) ENSP00000368682.4:p.Ala653_Phe654insTrpGl...
NM_000444.5:c.1952_1960dup (PHEX) NP_000435.3:p.Ala653_Phe654insTrpGluAla
NM_001282754.1:c.1952_1960dup (PHEX) NP_001269683.1:p.Ala653_Phe654insTrpGluAl...
XM_011545533.1:c.1196_1204dup (PHEX) XP_011543835.1:p.Ala401_Phe402insTrpGluAl...
XM_011545534.1:c.1196_1204dup (PHEX) XP_011543836.1:p.Ala401_Phe402insTrpGluAl...
XM_011545536.1:c.845_853dup (PHEX) XP_011543838.1:p.Ala284_Phe285insTrpGluAl...
XR_950534.1:n.326-480_326-472dup
NR_073010.2:n.1048+967_1048+975dup (PTCHD1-AS)
XM_011545536.2:c.845_853dup (PHEX) XP_011543838.1:p.Ala284_Phe285insTrpGluAl...
XM_017029579.1:c.1196_1204dup (PHEX) XP_016885068.1:p.Ala401_Phe402insTrpGluAl...
XM_024452390.1:c.1661_1669dup (PHEX) XP_024308158.1:p.Ala556_Phe557insTrpGluAl...
XR_001755695.1:n.2792_2800dup (PHEX)
NM_000444.6:c.1952_1960dup (PHEX) MANE Select NP_000435.3:p.Ala653_Phe654insTrpGluAla
NM_001282754.2:c.1952_1960dup (PHEX) NP_001269683.1:p.Ala653_Phe654insTrpGluAl...