Canonical Allele Identifier: CA2954268292

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22190458del , CM000685.2:g.22190458del	GRCh38
NC_000023.10:g.22208575del , CM000685.1:g.22208575del	GRCh37
NC_000023.9:g.22118496del	NCBI36
NG_007563.2:g.162655del

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1601del MANE Select	NP_000435.3:p.Pro534ArgfsTer?
ENST00000379374.5:c.1601del MANE Select	ENSP00000368682.4:p.Pro534ArgfsTer?
NM_000444.5:c.1601del	NP_000435.3:p.Pro534ArgfsTer?
NM_001282754.1:c.1601del	NP_001269683.1:p.Pro534ArgfsTer?
NM_001282754.2:c.1601del	NP_001269683.1:p.Pro534ArgfsTer?
ENST00000379374.4:c.1601del	ENSP00000368682.4:p.Pro534ArgfsTer?
ENST00000682888.1:c.155del	ENSP00000508003.1:p.Pro52ArgfsTer?
ENST00000683162.1:c.155del	ENSP00000508059.1:p.Pro52ArgfsTer?
ENST00000683289.1:c.155del	ENSP00000508195.1:p.Pro52ArgfsTer?
ENST00000683917.1:n.385del
ENST00000684356.1:c.155del	ENSP00000507619.1:p.Pro52ArgfsTer?
ENST00000684745.1:n.1275del
XM_011545533.1:c.845del	XP_011543835.1:p.Pro282ArgfsTer?
XM_011545534.1:c.845del	XP_011543836.1:p.Pro282ArgfsTer?
XM_011545536.1:c.494del	XP_011543838.1:p.Pro165ArgfsTer?
XM_011545536.2:c.494del	XP_011543838.1:p.Pro165ArgfsTer?
XM_017029579.1:c.845del	XP_016885068.1:p.Pro282ArgfsTer?
XM_024452390.1:c.1310del	XP_024308158.1:p.Pro437ArgfsTer?
XR_001755695.1:n.2441del