Canonical Allele Identifier: CA2419181316

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133553_22133554delinsGC , CM000685.2:g.22133553_22133554delinsGC	GRCh38
NC_000023.10:g.22151670_22151671delinsGC , CM000685.1:g.22151670_22151671delinsGC	GRCh37
NC_000023.9:g.22061591_22061592delinsGC	NCBI36
NG_007563.2:g.105750_105751delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1007_1008delinsGC
ENST00000379374.5:c.1333_1334delinsGC MANE Select	ENSP00000368682.4:p.Ala445=
ENST00000379374.4:c.1333_1334delinsGC	ENSP00000368682.4:p.Ala445=
NM_000444.5:c.1333_1334delinsGC	NP_000435.3:p.Ala445=
NM_001282754.1:c.1333_1334delinsGC	NP_001269683.1:p.Ala445=
XM_011545533.1:c.577_578delinsGC	XP_011543835.1:p.Ala193=
XM_011545534.1:c.577_578delinsGC	XP_011543836.1:p.Ala193=
XM_011545535.1:c.1333_1334delinsGC	XP_011543837.1:p.Ala445=
XM_011545536.1:c.226_227delinsGC	XP_011543838.1:p.Ala76=
XM_011545536.2:c.226_227delinsGC	XP_011543838.1:p.Ala76=
XM_017029579.1:c.577_578delinsGC	XP_016885068.1:p.Ala193=
XM_024452390.1:c.1042_1043delinsGC	XP_024308158.1:p.Ala348=
XR_001755695.1:n.2012_2013delinsGC
NM_000444.6:c.1333_1334delinsGC MANE Select	NP_000435.3:p.Ala445=
NM_001282754.2:c.1333_1334delinsGC	NP_001269683.1:p.Ala445=