Canonical Allele Identifier: CA1131593650

Gene: PHEX

Linked Data

• gnomAD v3: X-22047302-ACT-A
• gnomAD v4: X-22047302-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047303_22047304del , CM000685.2:g.22047303_22047304del	GRCh38
NC_000023.10:g.22065421_22065422del , CM000685.1:g.22065421_22065422del	GRCh37
NC_000023.9:g.21975342_21975343del	NCBI36
NG_007563.2:g.19501_19502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.775+92_775+93del
ENST00000683214.1:n.544+14180_544+14181del
ENST00000684143.1:c.349+92_349+93del	ENSP00000508264.1:n.349+92_349+93del
ENST00000379374.5:c.349+92_349+93del MANE Select	ENSP00000368682.4:n.349+92_349+93del
ENST00000379374.4:c.349+92_349+93del	ENSP00000368682.4:n.349+92_349+93del
NM_000444.5:c.349+92_349+93del	NP_000435.3:n.349+92_349+93del
NM_001282754.1:c.349+92_349+93del	NP_001269683.1:n.349+92_349+93del
XM_011545535.1:c.349+92_349+93del	XP_011543837.1:n.349+92_349+93del
XM_017029579.1:c.-94+92_-94+93del	XP_016885068.1:n.-94+92_-94+93del
XM_024452390.1:c.58+92_58+93del	XP_024308158.1:n.58+92_58+93del
XR_001755695.1:n.1028+92_1028+93del
NM_000444.6:c.349+92_349+93del MANE Select	NP_000435.3:n.349+92_349+93del
NM_001282754.2:c.349+92_349+93del	NP_001269683.1:n.349+92_349+93del