Canonical Allele Identifier: CA1131593411

Gene: PHEX

Linked Data

• dbSNP Id: rs1927550826
• gnomAD v3: X-22046726-CT-C
• gnomAD v4: X-22046726-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046727del , CM000685.2:g.22046727del	GRCh38
NC_000023.10:g.22064845del , CM000685.1:g.22064845del	GRCh37
NC_000023.9:g.21974766del	NCBI36
NG_007563.2:g.18925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-323del
ENST00000683214.1:n.544+13604del
ENST00000684143.1:c.188-323del	ENSP00000508264.1:n.188-323del
ENST00000379374.5:c.188-323del MANE Select	ENSP00000368682.4:n.188-323del
ENST00000379374.4:c.188-323del	ENSP00000368682.4:n.188-323del
NM_000444.5:c.188-323del	NP_000435.3:n.188-323del
NM_001282754.1:c.188-323del	NP_001269683.1:n.188-323del
XM_011545535.1:c.188-323del	XP_011543837.1:n.188-323del
XM_024452390.1:c.-104-323del	XP_024308158.1:n.-104-323del
XR_001755695.1:n.867-323del
NM_000444.6:c.188-323del MANE Select	NP_000435.3:n.188-323del
NM_001282754.2:c.188-323del	NP_001269683.1:n.188-323del