Canonical Allele Identifier: CA327522264

Gene: PHEX

Linked Data

• dbSNP Id: rs773591409
• gnomAD v2: X-22114937-TC-T
• gnomAD v3: X-22096819-TC-T
• gnomAD v4: X-22096819-TC-T
• MyVariant Identifiers: chrX:g.22114938del (hg19) ; chrX:g.22096820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096823del , CM000685.2:g.22096823del	GRCh38
NC_000023.10:g.22114941del , CM000685.1:g.22114941del	GRCh37
NC_000023.9:g.22024862del	NCBI36
NG_007563.2:g.69021del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1276-132del
ENST00000684143.1:c.847-132del	ENSP00000508264.1:n.847-132del
ENST00000684745.1:n.524-132del
ENST00000379374.5:c.850-132del MANE Select	ENSP00000368682.4:n.850-132del
ENST00000379374.4:c.850-132del	ENSP00000368682.4:n.850-132del
ENST00000475778.1:n.123-132del
NM_000444.5:c.850-132del	NP_000435.3:n.850-132del
NM_001282754.1:c.850-132del	NP_001269683.1:n.850-132del
XM_011545533.1:c.94-132del	XP_011543835.1:n.94-132del
XM_011545534.1:c.94-132del	XP_011543836.1:n.94-132del
XM_011545535.1:c.850-132del	XP_011543837.1:n.850-132del
XM_017029579.1:c.94-132del	XP_016885068.1:n.94-132del
XM_024452390.1:c.559-132del	XP_024308158.1:n.559-132del
XR_001755695.1:n.1529-132del
NM_000444.6:c.850-132del MANE Select	NP_000435.3:n.850-132del
NM_001282754.2:c.850-132del	NP_001269683.1:n.850-132del