Canonical Allele Identifier: CA2579571877
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22076479_22076482del , CM000685.2:g.22076479_22076482del GRCh38
NC_000023.10:g.22094597_22094600del , CM000685.1:g.22094597_22094600del GRCh37
NC_000023.9:g.22004518_22004521del NCBI36
NG_007563.2:g.48677_48680del

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.862+5_862+8del
ENST00000683214.1:n.545-997_545-994del
ENST00000684143.1:c.436+5_436+8del
ENST00000684745.1:n.113+5_113+8del
ENST00000379374.5:c.436+5_436+8del
ENST00000379374.4:c.436+5_436+8del
NM_000444.5:c.436+5_436+8del
NM_001282754.1:c.436+5_436+8del
XM_011545535.1:c.436+5_436+8del
XM_017029579.1:c.-93-13950_-93-13947del XP_016885068.1:n.-93-13950_-93-13947del
XM_024452390.1:c.145+5_145+8del
XR_001755695.1:n.1115+5_1115+8del
NM_000444.6:c.436+5_436+8del
NM_001282754.2:c.436+5_436+8del