Canonical Allele Identifier: CA1131585760

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1935504021
• gnomAD v3: X-22226424-C-CCTTTTTTCTTTCTGTT
• gnomAD v4: X-22226424-C-CCTTTTTTCTTTCTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226425_22226440dup , CM000685.2:g.22226425_22226440dup	GRCh38
NC_000023.10:g.22244542_22244557dup , CM000685.1:g.22244542_22244557dup	GRCh37
NC_000023.9:g.22154463_22154478dup	NCBI36
NG_007563.2:g.198622_198637dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.454-18_454-3dup (PHEX)	ENSP00000508003.1:n.454-18_454-3dup
ENST00000683162.1:c.454-18_454-3dup (PHEX)	ENSP00000508059.1:n.454-18_454-3dup
ENST00000683289.1:c.454-18_454-3dup (PHEX)	ENSP00000508195.1:n.454-18_454-3dup
ENST00000683917.1:n.684-18_684-3dup (PHEX)
ENST00000684356.1:c.454-18_454-3dup (PHEX)	ENSP00000507619.1:n.454-18_454-3dup
ENST00000684745.1:n.1574-18_1574-3dup (PHEX)
ENST00000379374.5:c.1900-18_1900-3dup (PHEX) MANE Select	ENSP00000368682.4:n.1900-18_1900-3dup
ENST00000379374.4:c.1900-18_1900-3dup (PHEX)	ENSP00000368682.4:n.1900-18_1900-3dup
NM_000444.5:c.1900-18_1900-3dup (PHEX)	NP_000435.3:n.1900-18_1900-3dup
NM_001282754.1:c.1900-18_1900-3dup (PHEX)	NP_001269683.1:n.1900-18_1900-3dup
XM_011545533.1:c.1144-18_1144-3dup (PHEX)	XP_011543835.1:n.1144-18_1144-3dup
XM_011545534.1:c.1144-18_1144-3dup (PHEX)	XP_011543836.1:n.1144-18_1144-3dup
XM_011545536.1:c.793-18_793-3dup (PHEX)	XP_011543838.1:n.793-18_793-3dup
XR_950534.1:n.326-417_326-402dup
NR_073010.2:n.1048+1030_1048+1045dup (PTCHD1-AS)
XM_011545536.2:c.793-18_793-3dup (PHEX)	XP_011543838.1:n.793-18_793-3dup
XM_017029579.1:c.1144-18_1144-3dup (PHEX)	XP_016885068.1:n.1144-18_1144-3dup
XM_024452390.1:c.1609-18_1609-3dup (PHEX)	XP_024308158.1:n.1609-18_1609-3dup
XR_001755695.1:n.2740-18_2740-3dup (PHEX)
NM_000444.6:c.1900-18_1900-3dup (PHEX) MANE Select	NP_000435.3:n.1900-18_1900-3dup
NM_001282754.2:c.1900-18_1900-3dup (PHEX)	NP_001269683.1:n.1900-18_1900-3dup