Canonical Allele Identifier: CA1139667271

Gene: PHEX

Linked Data

• ClinVar Variation Id: 937183
• ClinVar RCV Id: RCV001206146
• dbSNP Id: rs1926867732

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033035_22033041del , CM000685.2:g.22033035_22033041del	GRCh38
NC_000023.10:g.22051153_22051159del , CM000685.1:g.22051153_22051159del	GRCh37
NC_000023.9:g.21961074_21961080del	NCBI36
NG_007563.2:g.5233_5239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.456_462del
ENST00000683214.1:n.456_462del
ENST00000684143.1:c.30_36del	ENSP00000508264.1:p.Thr11ArgfsTer19
ENST00000379374.5:c.30_36del MANE Select	ENSP00000368682.4:p.Thr11ArgfsTer19
ENST00000379374.4:c.30_36del	ENSP00000368682.4:p.Thr11ArgfsTer19
NM_000444.5:c.30_36del	NP_000435.3:p.Thr11ArgfsTer19
NM_001282754.1:c.30_36del	NP_001269683.1:p.Thr11ArgfsTer19
XM_011545535.1:c.30_36del	XP_011543837.1:p.Thr11ArgfsTer19
XR_001755695.1:n.709_715del
NM_000444.6:c.30_36del MANE Select	NP_000435.3:p.Thr11ArgfsTer19
NM_001282754.2:c.30_36del	NP_001269683.1:p.Thr11ArgfsTer19