Canonical Allele Identifier: CA2579572416

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227545_22227559del , CM000685.2:g.22227545_22227559del	GRCh38
NC_000023.10:g.22245662_22245676del , CM000685.1:g.22245662_22245676del	GRCh37
NC_000023.9:g.22155583_22155597del	NCBI36
NG_007563.2:g.199742_199756del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.558_572del (PHEX)	ENSP00000508059.1:p.Glu187_Leu191del
ENST00000683289.1:c.558_572del (PHEX)	ENSP00000508195.1:p.Glu187_Leu191del
ENST00000683917.1:n.788_802del (PHEX)
ENST00000684356.1:c.558_572del (PHEX)	ENSP00000507619.1:p.Glu187_Leu191del
ENST00000684745.1:n.1678_1692del (PHEX)
ENST00000379374.5:c.2004_2018del (PHEX) MANE Select	ENSP00000368682.4:p.Glu669_Leu673del
ENST00000379374.4:c.2004_2018del (PHEX)	ENSP00000368682.4:p.Glu669_Leu673del
NM_000444.5:c.2004_2018del (PHEX)	NP_000435.3:p.Glu669_Leu673del
NM_001282754.1:c.2004_2018del (PHEX)	NP_001269683.1:p.Glu669_Leu673del
XM_011545533.1:c.1248_1262del (PHEX)	XP_011543835.1:p.Glu417_Leu421del
XM_011545534.1:c.1248_1262del (PHEX)	XP_011543836.1:p.Glu417_Leu421del
XM_011545536.1:c.897_911del (PHEX)	XP_011543838.1:p.Glu300_Leu304del
XR_950534.1:n.238_252del
NR_073010.2:n.961_975del (PTCHD1-AS)
XM_011545536.2:c.897_911del (PHEX)	XP_011543838.1:p.Glu300_Leu304del
XM_017029579.1:c.1248_1262del (PHEX)	XP_016885068.1:p.Glu417_Leu421del
XM_024452390.1:c.1713_1727del (PHEX)	XP_024308158.1:p.Glu572_Leu576del
XR_001755695.1:n.2844_2858del (PHEX)
NM_000444.6:c.2004_2018del (PHEX) MANE Select	NP_000435.3:p.Glu669_Leu673del
NM_001282754.2:c.2004_2018del (PHEX)	NP_001269683.1:p.Glu669_Leu673del