Canonical Allele Identifier: CA2820016813

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046627_22046628insAC , CM000685.2:g.22046627_22046628insAC	GRCh38
NC_000023.10:g.22064745_22064746insAC , CM000685.1:g.22064745_22064746insAC	GRCh37
NC_000023.9:g.21974666_21974667insAC	NCBI36
NG_007563.2:g.18825_18826insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-423_614-422insAC
ENST00000683214.1:n.544+13504_544+13505insAC
ENST00000684143.1:c.188-423_188-422insAC	ENSP00000508264.1:n.188-423_188-422insAC
ENST00000379374.5:c.188-423_188-422insAC MANE Select	ENSP00000368682.4:n.188-423_188-422insAC
ENST00000379374.4:c.188-423_188-422insAC	ENSP00000368682.4:n.188-423_188-422insAC
NM_000444.5:c.188-423_188-422insAC	NP_000435.3:n.188-423_188-422insAC
NM_001282754.1:c.188-423_188-422insAC	NP_001269683.1:n.188-423_188-422insAC
XM_011545535.1:c.188-423_188-422insAC	XP_011543837.1:n.188-423_188-422insAC
XM_024452390.1:c.-104-423_-104-422insAC	XP_024308158.1:n.-104-423_-104-422insAC
XR_001755695.1:n.867-423_867-422insAC
NM_000444.6:c.188-423_188-422insAC MANE Select	NP_000435.3:n.188-423_188-422insAC
NM_001282754.2:c.188-423_188-422insAC	NP_001269683.1:n.188-423_188-422insAC