Canonical Allele Identifier: CA2820019568

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248249del , CM000685.2:g.22248249del	GRCh38
NC_000023.10:g.22266366del , CM000685.1:g.22266366del	GRCh37
NC_000023.9:g.22176287del	NCBI36
NG_007563.2:g.220446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*484del (PHEX)	ENSP00000508059.1:n.*484del
ENST00000683289.1:c.624+20638del (PHEX)	ENSP00000508195.1:n.624+20638del
ENST00000683917.1:n.1158+172del (PHEX)
ENST00000684356.1:c.*296del (PHEX)	ENSP00000507619.1:n.*296del
ENST00000684745.1:n.2220del (PHEX)
ENST00000379374.5:c.*296del (PHEX) MANE Select	ENSP00000368682.4:n.*296del
ENST00000379374.4:c.*296del (PHEX)	ENSP00000368682.4:n.*296del
NM_000444.5:c.*296del (PHEX)	NP_000435.3:n.*296del
NM_001282754.1:c.*381del (PHEX)	NP_001269683.1:n.*381del
XM_011545533.1:c.*296del (PHEX)	XP_011543835.1:n.*296del
XM_011545534.1:c.*296del (PHEX)	XP_011543836.1:n.*296del
XM_011545536.1:c.*296del (PHEX)	XP_011543838.1:n.*296del
XR_950533.1:n.140+5693del
XR_950534.1:n.127+5693del
NR_073010.2:n.850+5693del (PTCHD1-AS)
XM_011545536.2:c.*296del (PHEX)	XP_011543838.1:n.*296del
XM_017029579.1:c.*296del (PHEX)	XP_016885068.1:n.*296del
XM_024452390.1:c.*296del (PHEX)	XP_024308158.1:n.*296del
XR_001755695.1:n.3386del (PHEX)
NM_000444.6:c.*296del (PHEX) MANE Select	NP_000435.3:n.*296del
NM_001282754.2:c.*381del (PHEX)	NP_001269683.1:n.*381del