Canonical Allele Identifier: CA2579572383

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226505del , CM000685.2:g.22226505del	GRCh38
NC_000023.10:g.22244622del , CM000685.1:g.22244622del	GRCh37
NC_000023.9:g.22154543del	NCBI36
NG_007563.2:g.198702del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.*1del (PHEX)	ENSP00000508003.1:n.*1del
ENST00000683162.1:c.516del (PHEX)	ENSP00000508059.1:p.Phe172LeufsTer8
ENST00000683289.1:c.516del (PHEX)	ENSP00000508195.1:p.Phe172LeufsTer8
ENST00000683917.1:n.746del (PHEX)
ENST00000684356.1:c.516del (PHEX)	ENSP00000507619.1:p.Phe172LeufsTer8
ENST00000684745.1:n.1636del (PHEX)
ENST00000379374.5:c.1962del (PHEX) MANE Select	ENSP00000368682.4:p.Phe654LeufsTer8
ENST00000379374.4:c.1962del (PHEX)	ENSP00000368682.4:p.Phe654LeufsTer8
NM_000444.5:c.1962del (PHEX)	NP_000435.3:p.Phe654LeufsTer8
NM_001282754.1:c.1962del (PHEX)	NP_001269683.1:p.Phe654LeufsTer8
XM_011545533.1:c.1206del (PHEX)	XP_011543835.1:p.Phe402LeufsTer8
XM_011545534.1:c.1206del (PHEX)	XP_011543836.1:p.Phe402LeufsTer8
XM_011545536.1:c.855del (PHEX)	XP_011543838.1:p.Phe285LeufsTer8
XR_950534.1:n.326-479del
NR_073010.2:n.1048+968del (PTCHD1-AS)
XM_011545536.2:c.855del (PHEX)	XP_011543838.1:p.Phe285LeufsTer8
XM_017029579.1:c.1206del (PHEX)	XP_016885068.1:p.Phe402LeufsTer8
XM_024452390.1:c.1671del (PHEX)	XP_024308158.1:p.Phe557LeufsTer8
XR_001755695.1:n.2802del (PHEX)
NM_000444.6:c.1962del (PHEX) MANE Select	NP_000435.3:p.Phe654LeufsTer8
NM_001282754.2:c.1962del (PHEX)	NP_001269683.1:p.Phe654LeufsTer8