Canonical Allele Identifier: CA2693307867
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

gnomAD v4: X-22227480-A-ACTCAT
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22227484_22227488dup , CM000685.2:g.22227484_22227488dup GRCh38
NC_000023.10:g.22245601_22245605dup , CM000685.1:g.22245601_22245605dup GRCh37
NC_000023.9:g.22155522_22155526dup NCBI36
NG_007563.2:g.199681_199685dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000683162.1:c.520-23_520-19dup (PHEX) ENSP00000508059.1:n.520-23_520-19dup
ENST00000683289.1:c.520-23_520-19dup (PHEX) ENSP00000508195.1:n.520-23_520-19dup
ENST00000683917.1:n.750-23_750-19dup (PHEX)
ENST00000684356.1:c.520-23_520-19dup (PHEX) ENSP00000507619.1:n.520-23_520-19dup
ENST00000684745.1:n.1640-23_1640-19dup (PHEX)
ENST00000379374.5:c.1966-23_1966-19dup (PHEX) MANE Select ENSP00000368682.4:n.1966-23_1966-19dup
ENST00000379374.4:c.1966-23_1966-19dup (PHEX) ENSP00000368682.4:n.1966-23_1966-19dup
NM_000444.5:c.1966-23_1966-19dup (PHEX) NP_000435.3:n.1966-23_1966-19dup
NM_001282754.1:c.1966-23_1966-19dup (PHEX) NP_001269683.1:n.1966-23_1966-19dup
XM_011545533.1:c.1210-23_1210-19dup (PHEX) XP_011543835.1:n.1210-23_1210-19dup
XM_011545534.1:c.1210-23_1210-19dup (PHEX) XP_011543836.1:n.1210-23_1210-19dup
XM_011545536.1:c.859-23_859-19dup (PHEX) XP_011543838.1:n.859-23_859-19dup
XR_950534.1:n.310_314dup
NR_073010.2:n.1033_1037dup (PTCHD1-AS)
XM_011545536.2:c.859-23_859-19dup (PHEX) XP_011543838.1:n.859-23_859-19dup
XM_017029579.1:c.1210-23_1210-19dup (PHEX) XP_016885068.1:n.1210-23_1210-19dup
XM_024452390.1:c.1675-23_1675-19dup (PHEX) XP_024308158.1:n.1675-23_1675-19dup
XR_001755695.1:n.2806-23_2806-19dup (PHEX)
NM_000444.6:c.1966-23_1966-19dup (PHEX) MANE Select NP_000435.3:n.1966-23_1966-19dup
NM_001282754.2:c.1966-23_1966-19dup (PHEX) NP_001269683.1:n.1966-23_1966-19dup
Search 100 bp 5'
Search 100 bp 3'