Canonical Allele Identifier: CA2579591329

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094002del , CM000685.2:g.22094002del	GRCh38
NC_000023.10:g.22112120del , CM000685.1:g.22112120del	GRCh37
NC_000023.9:g.22022041del	NCBI36
NG_007563.2:g.66200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1178del
ENST00000684143.1:c.749del	ENSP00000508264.1:p.Lys250SerfsTer10
ENST00000684745.1:n.426del
ENST00000379374.5:c.752del MANE Select	ENSP00000368682.4:p.Lys251SerfsTer10
ENST00000379374.4:c.752del	ENSP00000368682.4:p.Lys251SerfsTer10
ENST00000475778.1:n.25del
NM_000444.5:c.752del	NP_000435.3:p.Lys251SerfsTer10
NM_001282754.1:c.752del	NP_001269683.1:p.Lys251SerfsTer10
XM_011545533.1:c.-5del	XP_011543835.1:n.-5del
XM_011545534.1:c.-5del	XP_011543836.1:n.-5del
XM_011545535.1:c.752del	XP_011543837.1:p.Lys251SerfsTer10
XM_017029579.1:c.-5del	XP_016885068.1:n.-5del
XM_024452390.1:c.461del	XP_024308158.1:p.Lys154SerfsTer10
XR_001755695.1:n.1431del
NM_000444.6:c.752del MANE Select	NP_000435.3:p.Lys251SerfsTer10
NM_001282754.2:c.752del	NP_001269683.1:p.Lys251SerfsTer10