Canonical Allele Identifier: CA2419152371

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047136_22047142delinsAATCCAA , CM000685.2:g.22047136_22047142delinsAATCCAA	GRCh38
NC_000023.10:g.22065254_22065260delinsAATCCAA , CM000685.1:g.22065254_22065260delinsAATCCAA	GRCh37
NC_000023.9:g.21975175_21975181delinsAATCCAA	NCBI36
NG_007563.2:g.19334_19340delinsAATCCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.700_706delinsAATCCAA
ENST00000683214.1:n.544+14013_544+14019delinsAATCCAA
ENST00000684143.1:c.274_280delinsAATCCAA	ENSP00000508264.1:p.Asn92=
ENST00000379374.5:c.274_280delinsAATCCAA MANE Select	ENSP00000368682.4:p.Asn92=
ENST00000379374.4:c.274_280delinsAATCCAA	ENSP00000368682.4:p.Asn92=
NM_000444.5:c.274_280delinsAATCCAA	NP_000435.3:p.Asn92=
NM_001282754.1:c.274_280delinsAATCCAA	NP_001269683.1:p.Asn92=
XM_011545535.1:c.274_280delinsAATCCAA	XP_011543837.1:p.Asn92=
XM_024452390.1:c.-18_-12delinsAATCCAA	XP_024308158.1:n.-18_-12delinsAATCCAA
XR_001755695.1:n.953_959delinsAATCCAA
NM_000444.6:c.274_280delinsAATCCAA MANE Select	NP_000435.3:p.Asn92=
NM_001282754.2:c.274_280delinsAATCCAA	NP_001269683.1:p.Asn92=