Canonical Allele Identifier: CA2419152202

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046625_22046626delinsTG , CM000685.2:g.22046625_22046626delinsTG	GRCh38
NC_000023.10:g.22064743_22064744delinsTG , CM000685.1:g.22064743_22064744delinsTG	GRCh37
NC_000023.9:g.21974664_21974665delinsTG	NCBI36
NG_007563.2:g.18823_18824delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-425_614-424delinsTG
ENST00000683214.1:n.544+13502_544+13503delinsTG
ENST00000684143.1:c.188-425_188-424delinsTG	ENSP00000508264.1:n.188-425_188-424delinsTG
ENST00000379374.5:c.188-425_188-424delinsTG MANE Select	ENSP00000368682.4:n.188-425_188-424delinsTG
ENST00000379374.4:c.188-425_188-424delinsTG	ENSP00000368682.4:n.188-425_188-424delinsTG
NM_000444.5:c.188-425_188-424delinsTG	NP_000435.3:n.188-425_188-424delinsTG
NM_001282754.1:c.188-425_188-424delinsTG	NP_001269683.1:n.188-425_188-424delinsTG
XM_011545535.1:c.188-425_188-424delinsTG	XP_011543837.1:n.188-425_188-424delinsTG
XM_024452390.1:c.-104-425_-104-424delinsTG	XP_024308158.1:n.-104-425_-104-424delinsTG
XR_001755695.1:n.867-425_867-424delinsTG
NM_000444.6:c.188-425_188-424delinsTG MANE Select	NP_000435.3:n.188-425_188-424delinsTG
NM_001282754.2:c.188-425_188-424delinsTG	NP_001269683.1:n.188-425_188-424delinsTG