Canonical Allele Identifier: CA2740092060

Gene: PHEX

Linked Data

• ClinVar Variation Id: 3027352
• ClinVar RCV Id: RCV003887745

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047191dup , CM000685.2:g.22047191dup	GRCh38
NC_000023.10:g.22065309dup , CM000685.1:g.22065309dup	GRCh37
NC_000023.9:g.21975230dup	NCBI36
NG_007563.2:g.19389dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.755dup
ENST00000683214.1:n.544+14068dup
ENST00000684143.1:c.329dup	ENSP00000508264.1:p.Asn110LysfsTer3
ENST00000379374.5:c.329dup MANE Select	ENSP00000368682.4:p.Asn110LysfsTer3
ENST00000379374.4:c.329dup	ENSP00000368682.4:p.Asn110LysfsTer3
NM_000444.5:c.329dup	NP_000435.3:p.Asn110LysfsTer3
NM_001282754.1:c.329dup	NP_001269683.1:p.Asn110LysfsTer3
XM_011545535.1:c.329dup	XP_011543837.1:p.Asn110LysfsTer3
XM_017029579.1:c.-114dup	XP_016885068.1:n.-114dup
XM_024452390.1:c.38dup	XP_024308158.1:p.Asn13LysfsTer3
XR_001755695.1:n.1008dup
NM_000444.6:c.329dup MANE Select	NP_000435.3:p.Asn110LysfsTer3
NM_001282754.2:c.329dup	NP_001269683.1:p.Asn110LysfsTer3