Canonical Allele Identifier: CA2579571844
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047045_22047046del , CM000685.2:g.22047045_22047046del GRCh38
NC_000023.10:g.22065163_22065164del , CM000685.1:g.22065163_22065164del GRCh37
NC_000023.9:g.21975084_21975085del NCBI36
NG_007563.2:g.19243_19244del

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.614-5_614-4del
ENST00000683214.1:n.544+13922_544+13923del
ENST00000684143.1:c.188-5_188-4del ENSP00000508264.1:n.188-5_188-4del
ENST00000379374.5:c.188-5_188-4del MANE Select ENSP00000368682.4:n.188-5_188-4del
ENST00000379374.4:c.188-5_188-4del ENSP00000368682.4:n.188-5_188-4del
NM_000444.5:c.188-5_188-4del NP_000435.3:n.188-5_188-4del
NM_001282754.1:c.188-5_188-4del NP_001269683.1:n.188-5_188-4del
XM_011545535.1:c.188-5_188-4del XP_011543837.1:n.188-5_188-4del
XM_024452390.1:c.-104-5_-104-4del XP_024308158.1:n.-104-5_-104-4del
XR_001755695.1:n.867-5_867-4del
NM_000444.6:c.188-5_188-4del MANE Select NP_000435.3:n.188-5_188-4del
NM_001282754.2:c.188-5_188-4del NP_001269683.1:n.188-5_188-4del