Canonical Allele Identifier: CA16621314
Gene: PHEX HGNC NCBI

Linked Data

dbSNP Id: rs1064793956

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22090447_22090448del , CM000685.2:g.22090447_22090448del GRCh38
NC_000023.10:g.22108565_22108566del , CM000685.1:g.22108565_22108566del GRCh37
NC_000023.9:g.22018486_22018487del NCBI36
NG_007563.2:g.62645_62646del

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.1108_1109del
ENST00000684143.1:c.679_680del ENSP00000508264.1:p.Ser227ProfsTer9
ENST00000684745.1:n.356_357del
ENST00000379374.5:c.682_683del MANE Select ENSP00000368682.4:p.Ser228ProfsTer9
ENST00000379374.4:c.682_683del ENSP00000368682.4:p.Ser228ProfsTer9
NM_000444.5:c.682_683del NP_000435.3:p.Ser228ProfsTer9
NM_001282754.1:c.682_683del NP_001269683.1:p.Ser228ProfsTer9
XM_011545533.1:c.-75_-74del XP_011543835.1:n.-75_-74del
XM_011545534.1:c.-75_-74del XP_011543836.1:n.-75_-74del
XM_011545535.1:c.682_683del XP_011543837.1:p.Ser228ProfsTer9
XM_017029579.1:c.-75_-74del XP_016885068.1:n.-75_-74del
XM_024452390.1:c.391_392del XP_024308158.1:p.Ser131ProfsTer9
XR_001755695.1:n.1361_1362del
NM_000444.6:c.682_683del MANE Select NP_000435.3:p.Ser228ProfsTer9
NM_001282754.2:c.682_683del NP_001269683.1:p.Ser228ProfsTer9