Canonical Allele Identifier: CA2419152317

Gene: PHEX

Linked Data

• dbSNP Id: rs1927563856
• gnomAD v4: X-22046972-ATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046978_22046980del , CM000685.2:g.22046978_22046980del	GRCh38
NC_000023.10:g.22065096_22065098del , CM000685.1:g.22065096_22065098del	GRCh37
NC_000023.9:g.21975017_21975019del	NCBI36
NG_007563.2:g.19176_19178del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.614-72_614-70del
ENST00000683214.1:n.544+13855_544+13857del
ENST00000684143.1:c.188-72_188-70del	ENSP00000508264.1:n.188-72_188-70del
ENST00000379374.5:c.188-72_188-70del MANE Select	ENSP00000368682.4:n.188-72_188-70del
ENST00000379374.4:c.188-72_188-70del	ENSP00000368682.4:n.188-72_188-70del
NM_000444.5:c.188-72_188-70del	NP_000435.3:n.188-72_188-70del
NM_001282754.1:c.188-72_188-70del	NP_001269683.1:n.188-72_188-70del
XM_011545535.1:c.188-72_188-70del	XP_011543837.1:n.188-72_188-70del
XM_024452390.1:c.-104-72_-104-70del	XP_024308158.1:n.-104-72_-104-70del
XR_001755695.1:n.867-72_867-70del
NM_000444.6:c.188-72_188-70del MANE Select	NP_000435.3:n.188-72_188-70del
NM_001282754.2:c.188-72_188-70del	NP_001269683.1:n.188-72_188-70del