Canonical Allele Identifier: CA640416728

Gene: PHEX

Linked Data

• dbSNP Id: rs1169604978
• gnomAD v2: X-22196349-TCTTTA-T
• gnomAD v4: X-22178232-TCTTTA-T
• MyVariant Identifiers: chrX:g.22196350_22196354del (hg19) ; chrX:g.22178233_22178237del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178236_22178240del , CM000685.2:g.22178236_22178240del	GRCh38
NC_000023.10:g.22196353_22196357del , CM000685.1:g.22196353_22196357del	GRCh37
NC_000023.9:g.22106274_22106278del	NCBI36
NG_007563.2:g.150433_150437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.37-37_37-33del	ENSP00000508003.1:n.37-37_37-33del
ENST00000683162.1:c.37-37_37-33del	ENSP00000508059.1:n.37-37_37-33del
ENST00000683289.1:c.37-37_37-33del	ENSP00000508195.1:n.37-37_37-33del
ENST00000683917.1:n.267-37_267-33del
ENST00000684356.1:c.37-37_37-33del	ENSP00000507619.1:n.37-37_37-33del
ENST00000684745.1:n.1157-37_1157-33del
ENST00000379374.5:c.1483-37_1483-33del MANE Select	ENSP00000368682.4:n.1483-37_1483-33del
ENST00000379374.4:c.1483-37_1483-33del	ENSP00000368682.4:n.1483-37_1483-33del
NM_000444.5:c.1483-37_1483-33del	NP_000435.3:n.1483-37_1483-33del
NM_001282754.1:c.1483-37_1483-33del	NP_001269683.1:n.1483-37_1483-33del
XM_011545533.1:c.727-37_727-33del	XP_011543835.1:n.727-37_727-33del
XM_011545534.1:c.727-37_727-33del	XP_011543836.1:n.727-37_727-33del
XM_011545536.1:c.376-37_376-33del	XP_011543838.1:n.376-37_376-33del
XM_011545536.2:c.376-37_376-33del	XP_011543838.1:n.376-37_376-33del
XM_017029579.1:c.727-37_727-33del	XP_016885068.1:n.727-37_727-33del
XM_024452390.1:c.1192-37_1192-33del	XP_024308158.1:n.1192-37_1192-33del
XR_001755695.1:n.2323-37_2323-33del
NM_000444.6:c.1483-37_1483-33del MANE Select	NP_000435.3:n.1483-37_1483-33del
NM_001282754.2:c.1483-37_1483-33del	NP_001269683.1:n.1483-37_1483-33del