Canonical Allele Identifier: CA2695231453

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076433_22076436dup , CM000685.2:g.22076433_22076436dup	GRCh38
NC_000023.10:g.22094551_22094554dup , CM000685.1:g.22094551_22094554dup	GRCh37
NC_000023.9:g.22004472_22004475dup	NCBI36
NG_007563.2:g.48631_48634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.821_824dup
ENST00000683214.1:n.545-1043_545-1040dup
ENST00000684143.1:c.395_398dup	ENSP00000508264.1:p.Gln133HisfsTer14
ENST00000684745.1:n.72_75dup
ENST00000379374.5:c.395_398dup MANE Select	ENSP00000368682.4:p.Gln133HisfsTer14
ENST00000379374.4:c.395_398dup	ENSP00000368682.4:p.Gln133HisfsTer14
NM_000444.5:c.395_398dup	NP_000435.3:p.Gln133HisfsTer14
NM_001282754.1:c.395_398dup	NP_001269683.1:p.Gln133HisfsTer14
XM_011545535.1:c.395_398dup	XP_011543837.1:p.Gln133HisfsTer14
XM_017029579.1:c.-93-13996_-93-13993dup	XP_016885068.1:n.-93-13996_-93-13993dup
XM_024452390.1:c.104_107dup	XP_024308158.1:p.Gln36HisfsTer14
XR_001755695.1:n.1074_1077dup
NM_000444.6:c.395_398dup MANE Select	NP_000435.3:p.Gln133HisfsTer14
NM_001282754.2:c.395_398dup	NP_001269683.1:p.Gln133HisfsTer14