Canonical Allele Identifier: CA2695231438

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047066dup , CM000685.2:g.22047066dup	GRCh38
NC_000023.10:g.22065184dup , CM000685.1:g.22065184dup	GRCh37
NC_000023.9:g.21975105dup	NCBI36
NG_007563.2:g.19264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.630dup
ENST00000683214.1:n.544+13943dup
ENST00000684143.1:c.204dup	ENSP00000508264.1:p.Lys69Ter
ENST00000379374.5:c.204dup MANE Select	ENSP00000368682.4:p.Lys69Ter
ENST00000379374.4:c.204dup	ENSP00000368682.4:p.Lys69Ter
NM_000444.5:c.204dup	NP_000435.3:p.Lys69Ter
NM_001282754.1:c.204dup	NP_001269683.1:p.Lys69Ter
XM_011545535.1:c.204dup	XP_011543837.1:p.Lys69Ter
XM_024452390.1:c.-88dup	XP_024308158.1:n.-88dup
XR_001755695.1:n.883dup
NM_000444.6:c.204dup MANE Select	NP_000435.3:p.Lys69Ter
NM_001282754.2:c.204dup	NP_001269683.1:p.Lys69Ter