Canonical Allele Identifier: CA2419152270

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046804_22046805delinsTG , CM000685.2:g.22046804_22046805delinsTG	GRCh38
NC_000023.10:g.22064922_22064923delinsTG , CM000685.1:g.22064922_22064923delinsTG	GRCh37
NC_000023.9:g.21974843_21974844delinsTG	NCBI36
NG_007563.2:g.19002_19003delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-246_614-245delinsTG
ENST00000683214.1:n.544+13681_544+13682delinsTG
ENST00000684143.1:c.188-246_188-245delinsTG	ENSP00000508264.1:n.188-246_188-245delinsTG
ENST00000379374.5:c.188-246_188-245delinsTG MANE Select	ENSP00000368682.4:n.188-246_188-245delinsTG
ENST00000379374.4:c.188-246_188-245delinsTG	ENSP00000368682.4:n.188-246_188-245delinsTG
NM_000444.5:c.188-246_188-245delinsTG	NP_000435.3:n.188-246_188-245delinsTG
NM_001282754.1:c.188-246_188-245delinsTG	NP_001269683.1:n.188-246_188-245delinsTG
XM_011545535.1:c.188-246_188-245delinsTG	XP_011543837.1:n.188-246_188-245delinsTG
XM_024452390.1:c.-104-246_-104-245delinsTG	XP_024308158.1:n.-104-246_-104-245delinsTG
XR_001755695.1:n.867-246_867-245delinsTG
NM_000444.6:c.188-246_188-245delinsTG MANE Select	NP_000435.3:n.188-246_188-245delinsTG
NM_001282754.2:c.188-246_188-245delinsTG	NP_001269683.1:n.188-246_188-245delinsTG