Canonical Allele Identifier: CA2419167605

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093999_22094000delinsAC , CM000685.2:g.22093999_22094000delinsAC	GRCh38
NC_000023.10:g.22112117_22112118delinsAC , CM000685.1:g.22112117_22112118delinsAC	GRCh37
NC_000023.9:g.22022038_22022039delinsAC	NCBI36
NG_007563.2:g.66197_66198delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1175_1176delinsAC
ENST00000684143.1:c.746_747delinsAC	ENSP00000508264.1:p.Tyr249=
ENST00000684745.1:n.423_424delinsAC
ENST00000379374.5:c.749_750delinsAC MANE Select	ENSP00000368682.4:p.Tyr250=
ENST00000379374.4:c.749_750delinsAC	ENSP00000368682.4:p.Tyr250=
ENST00000475778.1:n.22_23delinsAC
NM_000444.5:c.749_750delinsAC	NP_000435.3:p.Tyr250=
NM_001282754.1:c.749_750delinsAC	NP_001269683.1:p.Tyr250=
XM_011545533.1:c.-8_-7delinsAC	XP_011543835.1:n.-8_-7delinsAC
XM_011545534.1:c.-8_-7delinsAC	XP_011543836.1:n.-8_-7delinsAC
XM_011545535.1:c.749_750delinsAC	XP_011543837.1:p.Tyr250=
XM_017029579.1:c.-8_-7delinsAC	XP_016885068.1:n.-8_-7delinsAC
XM_024452390.1:c.458_459delinsAC	XP_024308158.1:p.Tyr153=
XR_001755695.1:n.1428_1429delinsAC
NM_000444.6:c.749_750delinsAC MANE Select	NP_000435.3:p.Tyr250=
NM_001282754.2:c.749_750delinsAC	NP_001269683.1:p.Tyr250=