Canonical Allele Identifier: CA2695233013

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178291_22178294dup , CM000685.2:g.22178291_22178294dup	GRCh38
NC_000023.10:g.22196408_22196411dup , CM000685.1:g.22196408_22196411dup	GRCh37
NC_000023.9:g.22106329_22106332dup	NCBI36
NG_007563.2:g.150488_150491dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.55_58dup	ENSP00000508003.1:p.Tyr20Ter
ENST00000683162.1:c.55_58dup	ENSP00000508059.1:p.Tyr20Ter
ENST00000683289.1:c.55_58dup	ENSP00000508195.1:p.Tyr20Ter
ENST00000683917.1:n.285_288dup
ENST00000684356.1:c.55_58dup	ENSP00000507619.1:p.Tyr20Ter
ENST00000684745.1:n.1175_1178dup
ENST00000379374.5:c.1501_1504dup MANE Select	ENSP00000368682.4:p.Tyr502Ter
ENST00000379374.4:c.1501_1504dup	ENSP00000368682.4:p.Tyr502Ter
NM_000444.5:c.1501_1504dup	NP_000435.3:p.Tyr502Ter
NM_001282754.1:c.1501_1504dup	NP_001269683.1:p.Tyr502Ter
XM_011545533.1:c.745_748dup	XP_011543835.1:p.Tyr250Ter
XM_011545534.1:c.745_748dup	XP_011543836.1:p.Tyr250Ter
XM_011545536.1:c.394_397dup	XP_011543838.1:p.Tyr133Ter
XM_011545536.2:c.394_397dup	XP_011543838.1:p.Tyr133Ter
XM_017029579.1:c.745_748dup	XP_016885068.1:p.Tyr250Ter
XM_024452390.1:c.1210_1213dup	XP_024308158.1:p.Tyr405Ter
XR_001755695.1:n.2341_2344dup
NM_000444.6:c.1501_1504dup MANE Select	NP_000435.3:p.Tyr502Ter
NM_001282754.2:c.1501_1504dup	NP_001269683.1:p.Tyr502Ter