Canonical Allele Identifier: CA2580616906

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1069653
• ClinVar RCV Id: RCV001381581
• dbSNP Id: rs2147128222

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178333_22178334del , CM000685.2:g.22178333_22178334del	GRCh38
NC_000023.10:g.22196450_22196451del , CM000685.1:g.22196450_22196451del	GRCh37
NC_000023.9:g.22106371_22106372del	NCBI36
NG_007563.2:g.150530_150531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.97_98del	ENSP00000508003.1:p.Gln33ValfsTer2
ENST00000683162.1:c.97_98del	ENSP00000508059.1:p.Gln33ValfsTer2
ENST00000683289.1:c.97_98del	ENSP00000508195.1:p.Gln33ValfsTer2
ENST00000683917.1:n.327_328del
ENST00000684356.1:c.97_98del	ENSP00000507619.1:p.Gln33ValfsTer2
ENST00000684745.1:n.1217_1218del
ENST00000379374.5:c.1543_1544del MANE Select	ENSP00000368682.4:p.Gln515ValfsTer2
ENST00000379374.4:c.1543_1544del	ENSP00000368682.4:p.Gln515ValfsTer2
NM_000444.5:c.1543_1544del	NP_000435.3:p.Gln515ValfsTer2
NM_001282754.1:c.1543_1544del	NP_001269683.1:p.Gln515ValfsTer2
XM_011545533.1:c.787_788del	XP_011543835.1:p.Gln263ValfsTer2
XM_011545534.1:c.787_788del	XP_011543836.1:p.Gln263ValfsTer2
XM_011545536.1:c.436_437del	XP_011543838.1:p.Gln146ValfsTer2
XM_011545536.2:c.436_437del	XP_011543838.1:p.Gln146ValfsTer2
XM_017029579.1:c.787_788del	XP_016885068.1:p.Gln263ValfsTer2
XM_024452390.1:c.1252_1253del	XP_024308158.1:p.Gln418ValfsTer2
XR_001755695.1:n.2383_2384del
NM_000444.6:c.1543_1544del MANE Select	NP_000435.3:p.Gln515ValfsTer2
NM_001282754.2:c.1543_1544del	NP_001269683.1:p.Gln515ValfsTer2