Canonical Allele Identifier: CA1139667280

Gene: PHEX

Linked Data

• ClinVar Variation Id: 965315
• ClinVar RCV Id: RCV001239733
• dbSNP Id: rs1927579212

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047151_22048047delinsAAGATATGCCT , CM000685.2:g.22047151_22048047delinsAAGATATGCCT	GRCh38
NC_000023.10:g.22065269_22066165delinsAAGATATGCCT , CM000685.1:g.22065269_22066165delinsAAGATATGCCT	GRCh37
NC_000023.9:g.21975190_21976086delinsAAGATATGCCT	NCBI36
NG_007563.2:g.19349_20245delinsAAGATATGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.715_775+836delinsAAGATATGCCT
ENST00000683214.1:n.544+14028_544+14924delinsAAGATATGCCT
ENST00000684143.1:c.289_349+836delinsAAGATATGCCT
ENST00000379374.5:c.289_349+836delinsAAGATATGCCT
ENST00000379374.4:c.289_349+836delinsAAGATATGCCT
NM_000444.5:c.289_349+836delinsAAGATATGCCT
NM_001282754.1:c.289_349+836delinsAAGATATGCCT
XM_011545535.1:c.289_349+836delinsAAGATATGCCT
XM_024452390.1:c.-3_58+836delinsAAGATATGCCT
XR_001755695.1:n.968_1028+836delinsAAGATATGCCT
NM_000444.6:c.289_349+836delinsAAGATATGCCT
NM_001282754.2:c.289_349+836delinsAAGATATGCCT