Canonical Allele Identifier: CA2537324560

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248192_22248207del , CM000685.2:g.22248192_22248207del	GRCh38
NC_000023.10:g.22266309_22266324del , CM000685.1:g.22266309_22266324del	GRCh37
NC_000023.9:g.22176230_22176245del	NCBI36
NG_007563.2:g.220389_220404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*427_*442del (PHEX)	ENSP00000508059.1:n.*427_*442del
ENST00000683289.1:c.624+20581_624+20596del (PHEX)	ENSP00000508195.1:n.624+20581_624+20596del
ENST00000683917.1:n.1158+115_1158+130del (PHEX)
ENST00000684356.1:c.*239_*254del (PHEX)	ENSP00000507619.1:n.*239_*254del
ENST00000684745.1:n.2163_2178del (PHEX)
ENST00000379374.5:c.*239_*254del (PHEX) MANE Select	ENSP00000368682.4:n.*239_*254del
ENST00000379374.4:c.*239_*254del (PHEX)	ENSP00000368682.4:n.*239_*254del
NM_000444.5:c.*239_*254del (PHEX)	NP_000435.3:n.*239_*254del
NM_001282754.1:c.*324_*339del (PHEX)	NP_001269683.1:n.*324_*339del
XM_011545533.1:c.*239_*254del (PHEX)	XP_011543835.1:n.*239_*254del
XM_011545534.1:c.*239_*254del (PHEX)	XP_011543836.1:n.*239_*254del
XM_011545536.1:c.*239_*254del (PHEX)	XP_011543838.1:n.*239_*254del
XR_950533.1:n.140+5732_140+5747del
XR_950534.1:n.127+5732_127+5747del
NR_073010.2:n.850+5732_850+5747del (PTCHD1-AS)
XM_011545536.2:c.*239_*254del (PHEX)	XP_011543838.1:n.*239_*254del
XM_017029579.1:c.*239_*254del (PHEX)	XP_016885068.1:n.*239_*254del
XM_024452390.1:c.*239_*254del (PHEX)	XP_024308158.1:n.*239_*254del
XR_001755695.1:n.3329_3344del (PHEX)
NM_000444.6:c.*239_*254del (PHEX) MANE Select	NP_000435.3:n.*239_*254del
NM_001282754.2:c.*324_*339del (PHEX)	NP_001269683.1:n.*324_*339del