Canonical Allele Identifier: CA2693307729

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22226411-ATTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226420_22226423del , CM000685.2:g.22226420_22226423del	GRCh38
NC_000023.10:g.22244537_22244540del , CM000685.1:g.22244537_22244540del	GRCh37
NC_000023.9:g.22154458_22154461del	NCBI36
NG_007563.2:g.198617_198620del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.454-23_454-20del (PHEX)	ENSP00000508003.1:n.454-23_454-20del
ENST00000683162.1:c.454-23_454-20del (PHEX)	ENSP00000508059.1:n.454-23_454-20del
ENST00000683289.1:c.454-23_454-20del (PHEX)	ENSP00000508195.1:n.454-23_454-20del
ENST00000683917.1:n.684-23_684-20del (PHEX)
ENST00000684356.1:c.454-23_454-20del (PHEX)	ENSP00000507619.1:n.454-23_454-20del
ENST00000684745.1:n.1574-23_1574-20del (PHEX)
ENST00000379374.5:c.1900-23_1900-20del (PHEX) MANE Select	ENSP00000368682.4:n.1900-23_1900-20del
ENST00000379374.4:c.1900-23_1900-20del (PHEX)	ENSP00000368682.4:n.1900-23_1900-20del
NM_000444.5:c.1900-23_1900-20del (PHEX)	NP_000435.3:n.1900-23_1900-20del
NM_001282754.1:c.1900-23_1900-20del (PHEX)	NP_001269683.1:n.1900-23_1900-20del
XM_011545533.1:c.1144-23_1144-20del (PHEX)	XP_011543835.1:n.1144-23_1144-20del
XM_011545534.1:c.1144-23_1144-20del (PHEX)	XP_011543836.1:n.1144-23_1144-20del
XM_011545536.1:c.793-23_793-20del (PHEX)	XP_011543838.1:n.793-23_793-20del
XR_950534.1:n.326-392_326-389del
NR_073010.2:n.1048+1055_1048+1058del (PTCHD1-AS)
XM_011545536.2:c.793-23_793-20del (PHEX)	XP_011543838.1:n.793-23_793-20del
XM_017029579.1:c.1144-23_1144-20del (PHEX)	XP_016885068.1:n.1144-23_1144-20del
XM_024452390.1:c.1609-23_1609-20del (PHEX)	XP_024308158.1:n.1609-23_1609-20del
XR_001755695.1:n.2740-23_2740-20del (PHEX)
NM_000444.6:c.1900-23_1900-20del (PHEX) MANE Select	NP_000435.3:n.1900-23_1900-20del
NM_001282754.2:c.1900-23_1900-20del (PHEX)	NP_001269683.1:n.1900-23_1900-20del