Canonical Allele Identifier: CA2739268140

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2823669
• ClinVar RCV Id: RCV003706796

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133565del , CM000685.2:g.22133565del	GRCh38
NC_000023.10:g.22151682del , CM000685.1:g.22151682del	GRCh37
NC_000023.9:g.22061603del	NCBI36
NG_007563.2:g.105762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1019del
ENST00000379374.5:c.1345del MANE Select	ENSP00000368682.4:p.Met449CysfsTer2
ENST00000379374.4:c.1345del	ENSP00000368682.4:p.Met449CysfsTer2
NM_000444.5:c.1345del	NP_000435.3:p.Met449CysfsTer2
NM_001282754.1:c.1345del	NP_001269683.1:p.Met449CysfsTer2
XM_011545533.1:c.589del	XP_011543835.1:p.Met197CysfsTer2
XM_011545534.1:c.589del	XP_011543836.1:p.Met197CysfsTer2
XM_011545535.1:c.1345del	XP_011543837.1:p.Met449CysfsTer2
XM_011545536.1:c.238del	XP_011543838.1:p.Met80CysfsTer2
XM_011545536.2:c.238del	XP_011543838.1:p.Met80CysfsTer2
XM_017029579.1:c.589del	XP_016885068.1:p.Met197CysfsTer2
XM_024452390.1:c.1054del	XP_024308158.1:p.Met352CysfsTer2
XR_001755695.1:n.2024del
NM_000444.6:c.1345del MANE Select	NP_000435.3:p.Met449CysfsTer2
NM_001282754.2:c.1345del	NP_001269683.1:p.Met449CysfsTer2