Canonical Allele Identifier: CA2695231809
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22227508_22227566del , CM000685.2:g.22227508_22227566del GRCh38
NC_000023.10:g.22245625_22245683del , CM000685.1:g.22245625_22245683del GRCh37
NC_000023.9:g.22155546_22155604del NCBI36
NG_007563.2:g.199705_199763del

Transcript Alleles

HGVS Amino-acid change
ENST00000683162.1:c.521_579del (PHEX) ENSP00000508059.1:p.Ala174AspfsTer?
ENST00000683289.1:c.521_579del (PHEX) ENSP00000508195.1:p.Ala174AspfsTer29
ENST00000683917.1:n.751_809del (PHEX)
ENST00000684356.1:c.521_579del (PHEX) ENSP00000507619.1:p.Ala174AspfsTer?
ENST00000684745.1:n.1641_1699del (PHEX)
ENST00000379374.5:c.1967_2025del (PHEX) MANE Select ENSP00000368682.4:p.Ala656AspfsTer?
ENST00000379374.4:c.1967_2025del (PHEX) ENSP00000368682.4:p.Ala656AspfsTer?
NM_000444.5:c.1967_2025del (PHEX) NP_000435.3:p.Ala656AspfsTer?
NM_001282754.1:c.1967_2025del (PHEX) NP_001269683.1:p.Ala656AspfsTer?
XM_011545533.1:c.1211_1269del (PHEX) XP_011543835.1:p.Ala404AspfsTer?
XM_011545534.1:c.1211_1269del (PHEX) XP_011543836.1:p.Ala404AspfsTer?
XM_011545536.1:c.860_918del (PHEX) XP_011543838.1:p.Ala287AspfsTer?
XR_950534.1:n.229_287del
NR_073010.2:n.952_1010del (PTCHD1-AS)
XM_011545536.2:c.860_918del (PHEX) XP_011543838.1:p.Ala287AspfsTer?
XM_017029579.1:c.1211_1269del (PHEX) XP_016885068.1:p.Ala404AspfsTer?
XM_024452390.1:c.1676_1734del (PHEX) XP_024308158.1:p.Ala559AspfsTer?
XR_001755695.1:n.2807_2865del (PHEX)
NM_000444.6:c.1967_2025del (PHEX) MANE Select NP_000435.3:p.Ala656AspfsTer?
NM_001282754.2:c.1967_2025del (PHEX) NP_001269683.1:p.Ala656AspfsTer?
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