Canonical Allele Identifier: CA2693307037

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22219090-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22219093del , CM000685.2:g.22219093del	GRCh38
NC_000023.10:g.22237210del , CM000685.1:g.22237210del	GRCh37
NC_000023.9:g.22147131del	NCBI36
NG_007563.2:g.191290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.312del (PHEX)	ENSP00000508003.1:p.Phe104LeufsTer?
ENST00000683162.1:c.312del (PHEX)	ENSP00000508059.1:p.Phe104LeufsTer?
ENST00000683289.1:c.312del (PHEX)	ENSP00000508195.1:p.Phe104LeufsTer?
ENST00000683917.1:n.542del (PHEX)
ENST00000684356.1:c.312del (PHEX)	ENSP00000507619.1:p.Phe104LeufsTer?
ENST00000684745.1:n.1432del (PHEX)
ENST00000379374.5:c.1758del (PHEX) MANE Select	ENSP00000368682.4:p.Phe586LeufsTer?
ENST00000379374.4:c.1758del (PHEX)	ENSP00000368682.4:p.Phe586LeufsTer?
NM_000444.5:c.1758del (PHEX)	NP_000435.3:p.Phe586LeufsTer?
NM_001282754.1:c.1758del (PHEX)	NP_001269683.1:p.Phe586LeufsTer?
XM_011545533.1:c.1002del (PHEX)	XP_011543835.1:p.Phe334LeufsTer?
XM_011545534.1:c.1002del (PHEX)	XP_011543836.1:p.Phe334LeufsTer?
XM_011545536.1:c.651del (PHEX)	XP_011543838.1:p.Phe217LeufsTer?
NR_073010.2:n.1048+8379del (PTCHD1-AS)
XM_011545536.2:c.651del (PHEX)	XP_011543838.1:p.Phe217LeufsTer?
XM_017029579.1:c.1002del (PHEX)	XP_016885068.1:p.Phe334LeufsTer?
XM_024452390.1:c.1467del (PHEX)	XP_024308158.1:p.Phe489LeufsTer?
XR_001755695.1:n.2598del (PHEX)
NM_000444.6:c.1758del (PHEX) MANE Select	NP_000435.3:p.Phe586LeufsTer?
NM_001282754.2:c.1758del (PHEX)	NP_001269683.1:p.Phe586LeufsTer?