Canonical Allele Identifier: CA327532426

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1273183
• ClinVar RCV Id: RCV001679006
• dbSNP Id: rs35486190
• gnomAD v2: X-22244435-T-TTGAA
• gnomAD v3: X-22226318-T-TTGAA
• gnomAD v4: X-22226318-T-TTGAA
• MyVariant Identifiers: chrX:g.22244441_22244442insAATG (hg19) ; chrX:g.22244436_22244437insGAAT (hg19) ; chrX:g.22244435_22244436insTGAA (hg19) ; chrX:g.22226324_22226325insAATG (hg38) ; chrX:g.22226319_22226320insGAAT (hg38) ; chrX:g.22226318_22226319insTGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226321_22226324dup , CM000685.2:g.22226321_22226324dup	GRCh38
NC_000023.10:g.22244438_22244441dup , CM000685.1:g.22244438_22244441dup	GRCh37
NC_000023.9:g.22154359_22154362dup	NCBI36
NG_007563.2:g.198518_198521dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.454-122_454-119dup (PHEX)	ENSP00000508003.1:n.454-122_454-119dup
ENST00000683162.1:c.454-122_454-119dup (PHEX)	ENSP00000508059.1:n.454-122_454-119dup
ENST00000683289.1:c.454-122_454-119dup (PHEX)	ENSP00000508195.1:n.454-122_454-119dup
ENST00000683917.1:n.684-122_684-119dup (PHEX)
ENST00000684356.1:c.454-122_454-119dup (PHEX)	ENSP00000507619.1:n.454-122_454-119dup
ENST00000684745.1:n.1574-122_1574-119dup (PHEX)
ENST00000379374.5:c.1900-122_1900-119dup (PHEX) MANE Select	ENSP00000368682.4:n.1900-122_1900-119dup
ENST00000379374.4:c.1900-122_1900-119dup (PHEX)	ENSP00000368682.4:n.1900-122_1900-119dup
NM_000444.5:c.1900-122_1900-119dup (PHEX)	NP_000435.3:n.1900-122_1900-119dup
NM_001282754.1:c.1900-122_1900-119dup (PHEX)	NP_001269683.1:n.1900-122_1900-119dup
XM_011545533.1:c.1144-122_1144-119dup (PHEX)	XP_011543835.1:n.1144-122_1144-119dup
XM_011545534.1:c.1144-122_1144-119dup (PHEX)	XP_011543836.1:n.1144-122_1144-119dup
XM_011545536.1:c.793-122_793-119dup (PHEX)	XP_011543838.1:n.793-122_793-119dup
XR_950534.1:n.326-299_326-296dup
NR_073010.2:n.1048+1148_1048+1151dup (PTCHD1-AS)
XM_011545536.2:c.793-122_793-119dup (PHEX)	XP_011543838.1:n.793-122_793-119dup
XM_017029579.1:c.1144-122_1144-119dup (PHEX)	XP_016885068.1:n.1144-122_1144-119dup
XM_024452390.1:c.1609-122_1609-119dup (PHEX)	XP_024308158.1:n.1609-122_1609-119dup
XR_001755695.1:n.2740-122_2740-119dup (PHEX)
NM_000444.6:c.1900-122_1900-119dup (PHEX) MANE Select	NP_000435.3:n.1900-122_1900-119dup
NM_001282754.2:c.1900-122_1900-119dup (PHEX)	NP_001269683.1:n.1900-122_1900-119dup