Canonical Allele Identifier: CA16621343
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 423450
ClinVar RCV Id: RCV000481000
dbSNP Id: rs1064796434
MyVariant Identifiers: chrX:g.22263528_22263535del (hg19) chrX:g.22245411_22245418del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22245411_22245418del , CM000685.2:g.22245411_22245418del GRCh38
NC_000023.10:g.22263528_22263535del , CM000685.1:g.22263528_22263535del GRCh37
NC_000023.9:g.22173449_22173456del NCBI36
NG_007563.2:g.217608_217615del

Transcript Alleles

HGVS Amino-acid change
ENST00000683162.1:c.701+2_701+9del (PHEX)
ENST00000683289.1:c.624+17800_624+17807del (PHEX) ENSP00000508195.1:n.624+17800_624+17807de...
ENST00000683917.1:n.931+2_931+9del (PHEX)
ENST00000684356.1:c.701+2_701+9del (PHEX)
ENST00000684745.1:n.1821+2_1821+9del (PHEX)
ENST00000379374.5:c.2147+2_2147+9del (PHEX)
ENST00000379374.4:c.2147+2_2147+9del (PHEX)
NM_000444.5:c.2147+2_2147+9del (PHEX)
NM_001282754.1:c.2071-2440_2071-2433del (PHEX) NP_001269683.1:n.2071-2440_2071-2433del
XM_011545533.1:c.1391+2_1391+9del (PHEX)
XM_011545534.1:c.1391+2_1391+9del (PHEX)
XM_011545536.1:c.1040+2_1040+9del (PHEX)
XR_950533.1:n.140+8523_140+8530del
XR_950534.1:n.127+8523_127+8530del
NR_073010.2:n.850+8523_850+8530del (PTCHD1-AS)
XM_011545536.2:c.1040+2_1040+9del (PHEX)
XM_017029579.1:c.1391+2_1391+9del (PHEX)
XM_024452390.1:c.1856+2_1856+9del (PHEX)
XR_001755695.1:n.2987+2_2987+9del (PHEX)
NM_000444.6:c.2147+2_2147+9del (PHEX)
NM_001282754.2:c.2071-2440_2071-2433del (PHEX) NP_001269683.1:n.2071-2440_2071-2433del
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