Canonical Allele Identifier: CA2695231459

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076469_22076472del , CM000685.2:g.22076469_22076472del	GRCh38
NC_000023.10:g.22094587_22094590del , CM000685.1:g.22094587_22094590del	GRCh37
NC_000023.9:g.22004508_22004511del	NCBI36
NG_007563.2:g.48667_48670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.857_860del
ENST00000683214.1:n.545-1007_545-1004del
ENST00000684143.1:c.431_434del	ENSP00000508264.1:p.Asn144ArgfsTer?
ENST00000684745.1:n.108_111del
ENST00000379374.5:c.431_434del MANE Select	ENSP00000368682.4:p.Asn144ArgfsTer?
ENST00000379374.4:c.431_434del	ENSP00000368682.4:p.Asn144ArgfsTer?
NM_000444.5:c.431_434del	NP_000435.3:p.Asn144ArgfsTer?
NM_001282754.1:c.431_434del	NP_001269683.1:p.Asn144ArgfsTer?
XM_011545535.1:c.431_434del	XP_011543837.1:p.Asn144ArgfsTer?
XM_017029579.1:c.-93-13960_-93-13957del	XP_016885068.1:n.-93-13960_-93-13957del
XM_024452390.1:c.140_143del	XP_024308158.1:p.Asn47ArgfsTer?
XR_001755695.1:n.1110_1113del
NM_000444.6:c.431_434del MANE Select	NP_000435.3:p.Asn144ArgfsTer?
NM_001282754.2:c.431_434del	NP_001269683.1:p.Asn144ArgfsTer?