Canonical Allele Identifier: CA2695232349
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22219073_22219077dup , CM000685.2:g.22219073_22219077dup GRCh38
NC_000023.10:g.22237190_22237194dup , CM000685.1:g.22237190_22237194dup GRCh37
NC_000023.9:g.22147111_22147115dup NCBI36
NG_007563.2:g.191270_191274dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.292_296dup (PHEX) ENSP00000508003.1:p.Glu99AspfsTer?
ENST00000683162.1:c.292_296dup (PHEX) ENSP00000508059.1:p.Glu99AspfsTer?
ENST00000683289.1:c.292_296dup (PHEX) ENSP00000508195.1:p.Glu99AspfsTer?
ENST00000683917.1:n.522_526dup (PHEX)
ENST00000684356.1:c.292_296dup (PHEX) ENSP00000507619.1:p.Glu99AspfsTer?
ENST00000684745.1:n.1412_1416dup (PHEX)
ENST00000379374.5:c.1738_1742dup (PHEX) MANE Select ENSP00000368682.4:p.Glu581AspfsTer?
ENST00000379374.4:c.1738_1742dup (PHEX) ENSP00000368682.4:p.Glu581AspfsTer?
NM_000444.5:c.1738_1742dup (PHEX) NP_000435.3:p.Glu581AspfsTer?
NM_001282754.1:c.1738_1742dup (PHEX) NP_001269683.1:p.Glu581AspfsTer?
XM_011545533.1:c.982_986dup (PHEX) XP_011543835.1:p.Glu329AspfsTer?
XM_011545534.1:c.982_986dup (PHEX) XP_011543836.1:p.Glu329AspfsTer?
XM_011545536.1:c.631_635dup (PHEX) XP_011543838.1:p.Glu212AspfsTer?
NR_073010.2:n.1048+8395_1048+8399dup (PTCHD1-AS)
XM_011545536.2:c.631_635dup (PHEX) XP_011543838.1:p.Glu212AspfsTer?
XM_017029579.1:c.982_986dup (PHEX) XP_016885068.1:p.Glu329AspfsTer?
XM_024452390.1:c.1447_1451dup (PHEX) XP_024308158.1:p.Glu484AspfsTer?
XR_001755695.1:n.2578_2582dup (PHEX)
NM_000444.6:c.1738_1742dup (PHEX) MANE Select NP_000435.3:p.Glu581AspfsTer?
NM_001282754.2:c.1738_1742dup (PHEX) NP_001269683.1:p.Glu581AspfsTer?
Search 100 bp 5'
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