Canonical Allele Identifier: CA16043312
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 372462
ClinVar RCV Id: RCV000412973
dbSNP Id: rs1057517796
MyVariant Identifiers: chrX:g.22237222dupT (hg19) chrX:g.22219105dupT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22219105dup , CM000685.2:g.22219105dup GRCh38
NC_000023.10:g.22237222dup , CM000685.1:g.22237222dup GRCh37
NC_000023.9:g.22147143dup NCBI36
NG_007563.2:g.191302dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.322+2dup (PHEX) ENSP00000508003.1:n.322+2dup
ENST00000683162.1:c.322+2dup (PHEX) ENSP00000508059.1:n.322+2dup
ENST00000683289.1:c.322+2dup (PHEX) ENSP00000508195.1:n.322+2dup
ENST00000683917.1:n.552+2dup (PHEX)
ENST00000684356.1:c.322+2dup (PHEX) ENSP00000507619.1:n.322+2dup
ENST00000684745.1:n.1442+2dup (PHEX)
ENST00000379374.5:c.1768+2dup (PHEX) MANE Select ENSP00000368682.4:n.1768+2dup
ENST00000379374.4:c.1768+2dup (PHEX) ENSP00000368682.4:n.1768+2dup
NM_000444.5:c.1768+2dup (PHEX) NP_000435.3:n.1768+2dup
NM_001282754.1:c.1768+2dup (PHEX) NP_001269683.1:n.1768+2dup
XM_011545533.1:c.1012+2dup (PHEX) XP_011543835.1:n.1012+2dup
XM_011545534.1:c.1012+2dup (PHEX) XP_011543836.1:n.1012+2dup
XM_011545536.1:c.661+2dup (PHEX) XP_011543838.1:n.661+2dup
NR_073010.2:n.1048+8365dup (PTCHD1-AS)
XM_011545536.2:c.661+2dup (PHEX) XP_011543838.1:n.661+2dup
XM_017029579.1:c.1012+2dup (PHEX) XP_016885068.1:n.1012+2dup
XM_024452390.1:c.1477+2dup (PHEX) XP_024308158.1:n.1477+2dup
XR_001755695.1:n.2608+2dup (PHEX)
NM_000444.6:c.1768+2dup (PHEX) MANE Select NP_000435.3:n.1768+2dup
NM_001282754.2:c.1768+2dup (PHEX) NP_001269683.1:n.1768+2dup
Search 100 bp 5'
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