Canonical Allele Identifier: CA2820016065
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178360_22178367del , CM000685.2:g.22178360_22178367del GRCh38
NC_000023.10:g.22196477_22196484del , CM000685.1:g.22196477_22196484del GRCh37
NC_000023.9:g.22106398_22106405del NCBI36
NG_007563.2:g.150557_150564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682888.1:c.124_131del ENSP00000508003.1:p.Ala42LysfsTer?
ENST00000683162.1:c.124_131del ENSP00000508059.1:p.Ala42LysfsTer?
ENST00000683289.1:c.124_131del ENSP00000508195.1:p.Ala42LysfsTer?
ENST00000683917.1:n.354_361del
ENST00000684356.1:c.124_131del ENSP00000507619.1:p.Ala42LysfsTer?
ENST00000684745.1:n.1244_1251del
ENST00000379374.5:c.1570_1577del MANE Select ENSP00000368682.4:p.Ala524LysfsTer?
ENST00000379374.4:c.1570_1577del ENSP00000368682.4:p.Ala524LysfsTer?
NM_000444.5:c.1570_1577del NP_000435.3:p.Ala524LysfsTer?
NM_001282754.1:c.1570_1577del NP_001269683.1:p.Ala524LysfsTer?
XM_011545533.1:c.814_821del XP_011543835.1:p.Ala272LysfsTer?
XM_011545534.1:c.814_821del XP_011543836.1:p.Ala272LysfsTer?
XM_011545536.1:c.463_470del XP_011543838.1:p.Ala155LysfsTer?
XM_011545536.2:c.463_470del XP_011543838.1:p.Ala155LysfsTer?
XM_017029579.1:c.814_821del XP_016885068.1:p.Ala272LysfsTer?
XM_024452390.1:c.1279_1286del XP_024308158.1:p.Ala427LysfsTer?
XR_001755695.1:n.2410_2417del
NM_000444.6:c.1570_1577del MANE Select NP_000435.3:p.Ala524LysfsTer?
NM_001282754.2:c.1570_1577del NP_001269683.1:p.Ala524LysfsTer?