Canonical Allele Identifier: CA2419195595

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178348_22178349delinsTG , CM000685.2:g.22178348_22178349delinsTG	GRCh38
NC_000023.10:g.22196465_22196466delinsTG , CM000685.1:g.22196465_22196466delinsTG	GRCh37
NC_000023.9:g.22106386_22106387delinsTG	NCBI36
NG_007563.2:g.150545_150546delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.112_113delinsTG	ENSP00000508003.1:p.Trp38=
ENST00000683162.1:c.112_113delinsTG	ENSP00000508059.1:p.Trp38=
ENST00000683289.1:c.112_113delinsTG	ENSP00000508195.1:p.Trp38=
ENST00000683917.1:n.342_343delinsTG
ENST00000684356.1:c.112_113delinsTG	ENSP00000507619.1:p.Trp38=
ENST00000684745.1:n.1232_1233delinsTG
ENST00000379374.5:c.1558_1559delinsTG MANE Select	ENSP00000368682.4:p.Trp520=
ENST00000379374.4:c.1558_1559delinsTG	ENSP00000368682.4:p.Trp520=
NM_000444.5:c.1558_1559delinsTG	NP_000435.3:p.Trp520=
NM_001282754.1:c.1558_1559delinsTG	NP_001269683.1:p.Trp520=
XM_011545533.1:c.802_803delinsTG	XP_011543835.1:p.Trp268=
XM_011545534.1:c.802_803delinsTG	XP_011543836.1:p.Trp268=
XM_011545536.1:c.451_452delinsTG	XP_011543838.1:p.Trp151=
XM_011545536.2:c.451_452delinsTG	XP_011543838.1:p.Trp151=
XM_017029579.1:c.802_803delinsTG	XP_016885068.1:p.Trp268=
XM_024452390.1:c.1267_1268delinsTG	XP_024308158.1:p.Trp423=
XR_001755695.1:n.2398_2399delinsTG
NM_000444.6:c.1558_1559delinsTG MANE Select	NP_000435.3:p.Trp520=
NM_001282754.2:c.1558_1559delinsTG	NP_001269683.1:p.Trp520=