Canonical Allele Identifier: CA2419195603

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178373_22178375delinsCAG , CM000685.2:g.22178373_22178375delinsCAG	GRCh38
NC_000023.10:g.22196490_22196492delinsCAG , CM000685.1:g.22196490_22196492delinsCAG	GRCh37
NC_000023.9:g.22106411_22106413delinsCAG	NCBI36
NG_007563.2:g.150570_150572delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.137_139delinsCAG	ENSP00000508003.1:p.Thr46=
ENST00000683162.1:c.137_139delinsCAG	ENSP00000508059.1:p.Thr46=
ENST00000683289.1:c.137_139delinsCAG	ENSP00000508195.1:p.Thr46=
ENST00000683917.1:n.367_369delinsCAG
ENST00000684356.1:c.137_139delinsCAG	ENSP00000507619.1:p.Thr46=
ENST00000684745.1:n.1257_1259delinsCAG
ENST00000379374.5:c.1583_1585delinsCAG MANE Select	ENSP00000368682.4:p.Thr528=
ENST00000379374.4:c.1583_1585delinsCAG	ENSP00000368682.4:p.Thr528=
NM_000444.5:c.1583_1585delinsCAG	NP_000435.3:p.Thr528=
NM_001282754.1:c.1583_1585delinsCAG	NP_001269683.1:p.Thr528=
XM_011545533.1:c.827_829delinsCAG	XP_011543835.1:p.Thr276=
XM_011545534.1:c.827_829delinsCAG	XP_011543836.1:p.Thr276=
XM_011545536.1:c.476_478delinsCAG	XP_011543838.1:p.Thr159=
XM_011545536.2:c.476_478delinsCAG	XP_011543838.1:p.Thr159=
XM_017029579.1:c.827_829delinsCAG	XP_016885068.1:p.Thr276=
XM_024452390.1:c.1292_1294delinsCAG	XP_024308158.1:p.Thr431=
XR_001755695.1:n.2423_2425delinsCAG
NM_000444.6:c.1583_1585delinsCAG MANE Select	NP_000435.3:p.Thr528=
NM_001282754.2:c.1583_1585delinsCAG	NP_001269683.1:p.Thr528=