Canonical Allele Identifier: CA2693307257

Gene: PHEX

Linked Data

• gnomAD v4: X-22178250-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178254_22178256del , CM000685.2:g.22178254_22178256del	GRCh38
NC_000023.10:g.22196371_22196373del , CM000685.1:g.22196371_22196373del	GRCh37
NC_000023.9:g.22106292_22106294del	NCBI36
NG_007563.2:g.150451_150453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.37-19_37-17del	ENSP00000508003.1:n.37-19_37-17del
ENST00000683162.1:c.37-19_37-17del	ENSP00000508059.1:n.37-19_37-17del
ENST00000683289.1:c.37-19_37-17del	ENSP00000508195.1:n.37-19_37-17del
ENST00000683917.1:n.267-19_267-17del
ENST00000684356.1:c.37-19_37-17del	ENSP00000507619.1:n.37-19_37-17del
ENST00000684745.1:n.1157-19_1157-17del
ENST00000379374.5:c.1483-19_1483-17del MANE Select	ENSP00000368682.4:n.1483-19_1483-17del
ENST00000379374.4:c.1483-19_1483-17del	ENSP00000368682.4:n.1483-19_1483-17del
NM_000444.5:c.1483-19_1483-17del	NP_000435.3:n.1483-19_1483-17del
NM_001282754.1:c.1483-19_1483-17del	NP_001269683.1:n.1483-19_1483-17del
XM_011545533.1:c.727-19_727-17del	XP_011543835.1:n.727-19_727-17del
XM_011545534.1:c.727-19_727-17del	XP_011543836.1:n.727-19_727-17del
XM_011545536.1:c.376-19_376-17del	XP_011543838.1:n.376-19_376-17del
XM_011545536.2:c.376-19_376-17del	XP_011543838.1:n.376-19_376-17del
XM_017029579.1:c.727-19_727-17del	XP_016885068.1:n.727-19_727-17del
XM_024452390.1:c.1192-19_1192-17del	XP_024308158.1:n.1192-19_1192-17del
XR_001755695.1:n.2323-19_2323-17del
NM_000444.6:c.1483-19_1483-17del MANE Select	NP_000435.3:n.1483-19_1483-17del
NM_001282754.2:c.1483-19_1483-17del	NP_001269683.1:n.1483-19_1483-17del