Canonical Allele Identifier: CA327532430

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs59957380
• gnomAD v4: X-22226324-G-GAA
• MyVariant Identifiers: chrX:g.22244441_22244442insAA (hg19) ; chrX:g.22226324_22226325insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226324_22226325insAA , CM000685.2:g.22226324_22226325insAA	GRCh38
NC_000023.10:g.22244441_22244442insAA , CM000685.1:g.22244441_22244442insAA	GRCh37
NC_000023.9:g.22154362_22154363insAA	NCBI36
NG_007563.2:g.198521_198522insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.454-119_454-118insAA (PHEX)	ENSP00000508003.1:n.454-119_454-118insAA
ENST00000683162.1:c.454-119_454-118insAA (PHEX)	ENSP00000508059.1:n.454-119_454-118insAA
ENST00000683289.1:c.454-119_454-118insAA (PHEX)	ENSP00000508195.1:n.454-119_454-118insAA
ENST00000683917.1:n.684-119_684-118insAA (PHEX)
ENST00000684356.1:c.454-119_454-118insAA (PHEX)	ENSP00000507619.1:n.454-119_454-118insAA
ENST00000684745.1:n.1574-119_1574-118insAA (PHEX)
ENST00000379374.5:c.1900-119_1900-118insAA (PHEX) MANE Select	ENSP00000368682.4:n.1900-119_1900-118insAA
ENST00000379374.4:c.1900-119_1900-118insAA (PHEX)	ENSP00000368682.4:n.1900-119_1900-118insAA
NM_000444.5:c.1900-119_1900-118insAA (PHEX)	NP_000435.3:n.1900-119_1900-118insAA
NM_001282754.1:c.1900-119_1900-118insAA (PHEX)	NP_001269683.1:n.1900-119_1900-118insAA
XM_011545533.1:c.1144-119_1144-118insAA (PHEX)	XP_011543835.1:n.1144-119_1144-118insAA
XM_011545534.1:c.1144-119_1144-118insAA (PHEX)	XP_011543836.1:n.1144-119_1144-118insAA
XM_011545536.1:c.793-119_793-118insAA (PHEX)	XP_011543838.1:n.793-119_793-118insAA
XR_950534.1:n.326-302_326-301insTT
NR_073010.2:n.1048+1145_1048+1146insTT (PTCHD1-AS)
XM_011545536.2:c.793-119_793-118insAA (PHEX)	XP_011543838.1:n.793-119_793-118insAA
XM_017029579.1:c.1144-119_1144-118insAA (PHEX)	XP_016885068.1:n.1144-119_1144-118insAA
XM_024452390.1:c.1609-119_1609-118insAA (PHEX)	XP_024308158.1:n.1609-119_1609-118insAA
XR_001755695.1:n.2740-119_2740-118insAA (PHEX)
NM_000444.6:c.1900-119_1900-118insAA (PHEX) MANE Select	NP_000435.3:n.1900-119_1900-118insAA
NM_001282754.2:c.1900-119_1900-118insAA (PHEX)	NP_001269683.1:n.1900-119_1900-118insAA