Canonical Allele Identifier: CA2695231446

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047187_22047188dup , CM000685.2:g.22047187_22047188dup	GRCh38
NC_000023.10:g.22065305_22065306dup , CM000685.1:g.22065305_22065306dup	GRCh37
NC_000023.9:g.21975226_21975227dup	NCBI36
NG_007563.2:g.19385_19386dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.751_752dup
ENST00000683214.1:n.544+14064_544+14065dup
ENST00000684143.1:c.325_326dup	ENSP00000508264.1:p.Asn110IlefsTer7
ENST00000379374.5:c.325_326dup MANE Select	ENSP00000368682.4:p.Asn110IlefsTer7
ENST00000379374.4:c.325_326dup	ENSP00000368682.4:p.Asn110IlefsTer7
NM_000444.5:c.325_326dup	NP_000435.3:p.Asn110IlefsTer7
NM_001282754.1:c.325_326dup	NP_001269683.1:p.Asn110IlefsTer7
XM_011545535.1:c.325_326dup	XP_011543837.1:p.Asn110IlefsTer7
XM_017029579.1:c.-118_-117dup	XP_016885068.1:n.-118_-117dup
XM_024452390.1:c.34_35dup	XP_024308158.1:p.Asn13IlefsTer7
XR_001755695.1:n.1004_1005dup
NM_000444.6:c.325_326dup MANE Select	NP_000435.3:p.Asn110IlefsTer7
NM_001282754.2:c.325_326dup	NP_001269683.1:p.Asn110IlefsTer7