Canonical Allele Identifier: CA2693307226

Gene: PHEX

Linked Data

• gnomAD v4: X-22178178-T-TCTCTGCTAGTTGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178181_22178195dup , CM000685.2:g.22178181_22178195dup	GRCh38
NC_000023.10:g.22196298_22196312dup , CM000685.1:g.22196298_22196312dup	GRCh37
NC_000023.9:g.22106219_22106233dup	NCBI36
NG_007563.2:g.150378_150392dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.37-92_37-78dup	ENSP00000508003.1:n.37-92_37-78dup
ENST00000683162.1:c.37-92_37-78dup	ENSP00000508059.1:n.37-92_37-78dup
ENST00000683289.1:c.37-92_37-78dup	ENSP00000508195.1:n.37-92_37-78dup
ENST00000683917.1:n.267-92_267-78dup
ENST00000684356.1:c.37-92_37-78dup	ENSP00000507619.1:n.37-92_37-78dup
ENST00000684745.1:n.1157-92_1157-78dup
ENST00000379374.5:c.1483-92_1483-78dup MANE Select	ENSP00000368682.4:n.1483-92_1483-78dup
ENST00000379374.4:c.1483-92_1483-78dup	ENSP00000368682.4:n.1483-92_1483-78dup
NM_000444.5:c.1483-92_1483-78dup	NP_000435.3:n.1483-92_1483-78dup
NM_001282754.1:c.1483-92_1483-78dup	NP_001269683.1:n.1483-92_1483-78dup
XM_011545533.1:c.727-92_727-78dup	XP_011543835.1:n.727-92_727-78dup
XM_011545534.1:c.727-92_727-78dup	XP_011543836.1:n.727-92_727-78dup
XM_011545536.1:c.376-92_376-78dup	XP_011543838.1:n.376-92_376-78dup
XM_011545536.2:c.376-92_376-78dup	XP_011543838.1:n.376-92_376-78dup
XM_017029579.1:c.727-92_727-78dup	XP_016885068.1:n.727-92_727-78dup
XM_024452390.1:c.1192-92_1192-78dup	XP_024308158.1:n.1192-92_1192-78dup
XR_001755695.1:n.2323-92_2323-78dup
NM_000444.6:c.1483-92_1483-78dup MANE Select	NP_000435.3:n.1483-92_1483-78dup
NM_001282754.2:c.1483-92_1483-78dup	NP_001269683.1:n.1483-92_1483-78dup