Canonical Allele Identifier: CA2573158527

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1679897
• ClinVar RCV Id: RCV002227913
• dbSNP Id: rs2147086366

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133545_22133546insCCCACCC , CM000685.2:g.22133545_22133546insCCCACCC	GRCh38
NC_000023.10:g.22151662_22151663insCCCACCC , CM000685.1:g.22151662_22151663insCCCACCC	GRCh37
NC_000023.9:g.22061583_22061584insCCCACCC	NCBI36
NG_007563.2:g.105742_105743insCCCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.999_1000insCCCACCC
ENST00000379374.5:c.1325_1326insCCCACCC MANE Select	ENSP00000368682.4:p.Arg443ProfsTer8
ENST00000379374.4:c.1325_1326insCCCACCC	ENSP00000368682.4:p.Arg443ProfsTer8
NM_000444.5:c.1325_1326insCCCACCC	NP_000435.3:p.Arg443ProfsTer8
NM_001282754.1:c.1325_1326insCCCACCC	NP_001269683.1:p.Arg443ProfsTer8
XM_011545533.1:c.569_570insCCCACCC	XP_011543835.1:p.Arg191ProfsTer8
XM_011545534.1:c.569_570insCCCACCC	XP_011543836.1:p.Arg191ProfsTer8
XM_011545535.1:c.1325_1326insCCCACCC	XP_011543837.1:p.Arg443ProfsTer8
XM_011545536.1:c.218_219insCCCACCC	XP_011543838.1:p.Arg74ProfsTer8
XM_011545536.2:c.218_219insCCCACCC	XP_011543838.1:p.Arg74ProfsTer8
XM_017029579.1:c.569_570insCCCACCC	XP_016885068.1:p.Arg191ProfsTer8
XM_024452390.1:c.1034_1035insCCCACCC	XP_024308158.1:p.Arg346ProfsTer8
XR_001755695.1:n.2004_2005insCCCACCC
NM_000444.6:c.1325_1326insCCCACCC MANE Select	NP_000435.3:p.Arg443ProfsTer8
NM_001282754.2:c.1325_1326insCCCACCC	NP_001269683.1:p.Arg443ProfsTer8