Canonical Allele Identifier: CA10368023

Gene: PHEX

Linked Data

• dbSNP Id: rs760125505
• ExAC: X:22094494 T / TA
• gnomAD v2: X-22094494-T-TA
• gnomAD v3: X-22076376-T-TA
• gnomAD v4: X-22076376-T-TA
• MyVariant Identifiers: chrX:g.22094494_22094495insA (hg19) ; chrX:g.22076376_22076377insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076378dup , CM000685.2:g.22076378dup	GRCh38
NC_000023.10:g.22094496dup , CM000685.1:g.22094496dup	GRCh37
NC_000023.9:g.22004417dup	NCBI36
NG_007563.2:g.48576dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.776-10dup
ENST00000683214.1:n.545-1098dup
ENST00000684143.1:c.350-10dup	ENSP00000508264.1:n.350-10dup
ENST00000684745.1:n.27-10dup
ENST00000379374.5:c.350-10dup MANE Select	ENSP00000368682.4:n.350-10dup
ENST00000379374.4:c.350-10dup	ENSP00000368682.4:n.350-10dup
NM_000444.5:c.350-10dup	NP_000435.3:n.350-10dup
NM_001282754.1:c.350-10dup	NP_001269683.1:n.350-10dup
XM_011545535.1:c.350-10dup	XP_011543837.1:n.350-10dup
XM_017029579.1:c.-93-14051dup	XP_016885068.1:n.-93-14051dup
XM_024452390.1:c.59-10dup	XP_024308158.1:n.59-10dup
XR_001755695.1:n.1029-10dup
NM_000444.6:c.350-10dup MANE Select	NP_000435.3:n.350-10dup
NM_001282754.2:c.350-10dup	NP_001269683.1:n.350-10dup