Canonical Allele Identifier: CA916083870

Gene: PHEX

Linked Data

• ClinVar Variation Id: 862154
• ClinVar RCV Id: RCV001068824
• dbSNP Id: rs1930020467

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094016_22094017dup , CM000685.2:g.22094016_22094017dup	GRCh38
NC_000023.10:g.22112134_22112135dup , CM000685.1:g.22112134_22112135dup	GRCh37
NC_000023.9:g.22022055_22022056dup	NCBI36
NG_007563.2:g.66214_66215dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1192_1193dup
ENST00000684143.1:c.763_764dup	ENSP00000508264.1:p.Ala256LeufsTer5
ENST00000684745.1:n.440_441dup
ENST00000379374.5:c.766_767dup MANE Select	ENSP00000368682.4:p.Ala257LeufsTer5
ENST00000379374.4:c.766_767dup	ENSP00000368682.4:p.Ala257LeufsTer5
ENST00000475778.1:n.39_40dup
NM_000444.5:c.766_767dup	NP_000435.3:p.Ala257LeufsTer5
NM_001282754.1:c.766_767dup	NP_001269683.1:p.Ala257LeufsTer5
XM_011545533.1:c.10_11dup	XP_011543835.1:p.Ala5LeufsTer5
XM_011545534.1:c.10_11dup	XP_011543836.1:p.Ala5LeufsTer5
XM_011545535.1:c.766_767dup	XP_011543837.1:p.Ala257LeufsTer5
XM_017029579.1:c.10_11dup	XP_016885068.1:p.Ala5LeufsTer5
XM_024452390.1:c.475_476dup	XP_024308158.1:p.Ala160LeufsTer5
XR_001755695.1:n.1445_1446dup
NM_000444.6:c.766_767dup MANE Select	NP_000435.3:p.Ala257LeufsTer5
NM_001282754.2:c.766_767dup	NP_001269683.1:p.Ala257LeufsTer5