Canonical Allele Identifier: CA2693303914

Gene: PHEX

Linked Data

• gnomAD v4: X-22033000-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033002del , CM000685.2:g.22033002del	GRCh38
NC_000023.10:g.22051120del , CM000685.1:g.22051120del	GRCh37
NC_000023.9:g.21961041del	NCBI36
NG_007563.2:g.5200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.423del
ENST00000683214.1:n.423del
ENST00000684143.1:c.-4del	ENSP00000508264.1:n.-4del
ENST00000379374.5:c.-4del MANE Select	ENSP00000368682.4:n.-4del
ENST00000379374.4:c.-4del	ENSP00000368682.4:n.-4del
NM_000444.5:c.-4del	NP_000435.3:n.-4del
NM_001282754.1:c.-4del	NP_001269683.1:n.-4del
XM_011545535.1:c.-4del	XP_011543837.1:n.-4del
XR_001755695.1:n.676del
NM_000444.6:c.-4del MANE Select	NP_000435.3:n.-4del
NM_001282754.2:c.-4del	NP_001269683.1:n.-4del