Canonical Allele Identifier: CA2695231503

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22097008del , CM000685.2:g.22097008del	GRCh38
NC_000023.10:g.22115126del , CM000685.1:g.22115126del	GRCh37
NC_000023.9:g.22025047del	NCBI36
NG_007563.2:g.69206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1329del
ENST00000684143.1:c.900del	ENSP00000508264.1:p.Asn300LysfsTer5
ENST00000684745.1:n.577del
ENST00000379374.5:c.903del MANE Select	ENSP00000368682.4:p.Asn301LysfsTer5
ENST00000379374.4:c.903del	ENSP00000368682.4:p.Asn301LysfsTer5
ENST00000475778.1:n.176del
NM_000444.5:c.903del	NP_000435.3:p.Asn301LysfsTer5
NM_001282754.1:c.903del	NP_001269683.1:p.Asn301LysfsTer5
XM_011545533.1:c.147del	XP_011543835.1:p.Asn49LysfsTer5
XM_011545534.1:c.147del	XP_011543836.1:p.Asn49LysfsTer5
XM_011545535.1:c.903del	XP_011543837.1:p.Asn301LysfsTer5
XM_017029579.1:c.147del	XP_016885068.1:p.Asn49LysfsTer5
XM_024452390.1:c.612del	XP_024308158.1:p.Asn204LysfsTer5
XR_001755695.1:n.1582del
NM_000444.6:c.903del MANE Select	NP_000435.3:p.Asn301LysfsTer5
NM_001282754.2:c.903del	NP_001269683.1:p.Asn301LysfsTer5