Canonical Allele Identifier: CA2693307665

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22226316-T-TGTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226316_22226317insGTTG , CM000685.2:g.22226316_22226317insGTTG	GRCh38
NC_000023.10:g.22244433_22244434insGTTG , CM000685.1:g.22244433_22244434insGTTG	GRCh37
NC_000023.9:g.22154354_22154355insGTTG	NCBI36
NG_007563.2:g.198513_198514insGTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.454-127_454-126insGTTG (PHEX)	ENSP00000508003.1:n.454-127_454-126insGTTG
ENST00000683162.1:c.454-127_454-126insGTTG (PHEX)	ENSP00000508059.1:n.454-127_454-126insGTTG
ENST00000683289.1:c.454-127_454-126insGTTG (PHEX)	ENSP00000508195.1:n.454-127_454-126insGTTG
ENST00000683917.1:n.684-127_684-126insGTTG (PHEX)
ENST00000684356.1:c.454-127_454-126insGTTG (PHEX)	ENSP00000507619.1:n.454-127_454-126insGTTG
ENST00000684745.1:n.1574-127_1574-126insGTTG (PHEX)
ENST00000379374.5:c.1900-127_1900-126insGTTG (PHEX) MANE Select	ENSP00000368682.4:n.1900-127_1900-126insGTTG
ENST00000379374.4:c.1900-127_1900-126insGTTG (PHEX)	ENSP00000368682.4:n.1900-127_1900-126insGTTG
NM_000444.5:c.1900-127_1900-126insGTTG (PHEX)	NP_000435.3:n.1900-127_1900-126insGTTG
NM_001282754.1:c.1900-127_1900-126insGTTG (PHEX)	NP_001269683.1:n.1900-127_1900-126insGTTG
XM_011545533.1:c.1144-127_1144-126insGTTG (PHEX)	XP_011543835.1:n.1144-127_1144-126insGTTG
XM_011545534.1:c.1144-127_1144-126insGTTG (PHEX)	XP_011543836.1:n.1144-127_1144-126insGTTG
XM_011545536.1:c.793-127_793-126insGTTG (PHEX)	XP_011543838.1:n.793-127_793-126insGTTG
XR_950534.1:n.326-294_326-293insCAAC
NR_073010.2:n.1048+1153_1048+1154insCAAC (PTCHD1-AS)
XM_011545536.2:c.793-127_793-126insGTTG (PHEX)	XP_011543838.1:n.793-127_793-126insGTTG
XM_017029579.1:c.1144-127_1144-126insGTTG (PHEX)	XP_016885068.1:n.1144-127_1144-126insGTTG
XM_024452390.1:c.1609-127_1609-126insGTTG (PHEX)	XP_024308158.1:n.1609-127_1609-126insGTTG
XR_001755695.1:n.2740-127_2740-126insGTTG (PHEX)
NM_000444.6:c.1900-127_1900-126insGTTG (PHEX) MANE Select	NP_000435.3:n.1900-127_1900-126insGTTG
NM_001282754.2:c.1900-127_1900-126insGTTG (PHEX)	NP_001269683.1:n.1900-127_1900-126insGTTG