Canonical Allele Identifier: CA2579572481

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247871del , CM000685.2:g.22247871del	GRCh38
NC_000023.10:g.22265988del , CM000685.1:g.22265988del	GRCh37
NC_000023.9:g.22175909del	NCBI36
NG_007563.2:g.220068del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*106del (PHEX)	ENSP00000508059.1:n.*106del
ENST00000683289.1:c.624+20260del (PHEX)	ENSP00000508195.1:n.624+20260del
ENST00000683917.1:n.952del (PHEX)
ENST00000684356.1:c.722del (PHEX)	ENSP00000507619.1:p.Asn241ThrfsTer17
ENST00000684745.1:n.1842del (PHEX)
ENST00000379374.5:c.2168del (PHEX) MANE Select	ENSP00000368682.4:p.Asn723ThrfsTer17
ENST00000379374.4:c.2168del (PHEX)	ENSP00000368682.4:p.Asn723ThrfsTer17
NM_000444.5:c.2168del (PHEX)	NP_000435.3:p.Asn723ThrfsTer17
NM_001282754.1:c.*3del (PHEX)	NP_001269683.1:n.*3del
XM_011545533.1:c.1412del (PHEX)	XP_011543835.1:p.Asn471ThrfsTer17
XM_011545534.1:c.1412del (PHEX)	XP_011543836.1:p.Asn471ThrfsTer17
XM_011545536.1:c.1061del (PHEX)	XP_011543838.1:p.Asn354ThrfsTer17
XR_950533.1:n.140+6069del
XR_950534.1:n.127+6069del
NR_073010.2:n.850+6069del (PTCHD1-AS)
XM_011545536.2:c.1061del (PHEX)	XP_011543838.1:p.Asn354ThrfsTer17
XM_017029579.1:c.1412del (PHEX)	XP_016885068.1:p.Asn471ThrfsTer17
XM_024452390.1:c.1877del (PHEX)	XP_024308158.1:p.Asn626ThrfsTer17
XR_001755695.1:n.3008del (PHEX)
NM_000444.6:c.2168del (PHEX) MANE Select	NP_000435.3:p.Asn723ThrfsTer17
NM_001282754.2:c.*3del (PHEX)	NP_001269683.1:n.*3del