Canonical Allele Identifier: CA2693304733

Gene: PHEX

Linked Data

• gnomAD v4: X-22093995-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093998del , CM000685.2:g.22093998del	GRCh38
NC_000023.10:g.22112116del , CM000685.1:g.22112116del	GRCh37
NC_000023.9:g.22022037del	NCBI36
NG_007563.2:g.66196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1174del
ENST00000684143.1:c.745del	ENSP00000508264.1:p.Tyr249ThrfsTer11
ENST00000684745.1:n.422del
ENST00000379374.5:c.748del MANE Select	ENSP00000368682.4:p.Tyr250ThrfsTer11
ENST00000379374.4:c.748del	ENSP00000368682.4:p.Tyr250ThrfsTer11
ENST00000475778.1:n.21del
NM_000444.5:c.748del	NP_000435.3:p.Tyr250ThrfsTer11
NM_001282754.1:c.748del	NP_001269683.1:p.Tyr250ThrfsTer11
XM_011545533.1:c.-9del	XP_011543835.1:n.-9del
XM_011545534.1:c.-9del	XP_011543836.1:n.-9del
XM_011545535.1:c.748del	XP_011543837.1:p.Tyr250ThrfsTer11
XM_017029579.1:c.-9del	XP_016885068.1:n.-9del
XM_024452390.1:c.457del	XP_024308158.1:p.Tyr153ThrfsTer11
XR_001755695.1:n.1427del
NM_000444.6:c.748del MANE Select	NP_000435.3:p.Tyr250ThrfsTer11
NM_001282754.2:c.748del	NP_001269683.1:p.Tyr250ThrfsTer11