Canonical Allele Identifier: CA2499226575

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1074504
• ClinVar RCV Id: RCV001387826
• dbSNP Id: rs2147086549

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133610_22133625del , CM000685.2:g.22133610_22133625del	GRCh38
NC_000023.10:g.22151727_22151742del , CM000685.1:g.22151727_22151742del	GRCh37
NC_000023.9:g.22061648_22061663del	NCBI36
NG_007563.2:g.105807_105822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1064_1078+1del
ENST00000379374.5:c.1390_1404+1del
ENST00000379374.4:c.1390_1404+1del
NM_000444.5:c.1390_1404+1del
NM_001282754.1:c.1390_1404+1del
XM_011545533.1:c.634_648+1del
XM_011545534.1:c.634_648+1del
XM_011545535.1:c.1390_1404+1del
XM_011545536.1:c.283_297+1del
XM_011545536.2:c.283_297+1del
XM_017029579.1:c.634_648+1del
XM_024452390.1:c.1099_1113+1del
XR_001755695.1:n.2069_2083+1del
NM_000444.6:c.1390_1404+1del
NM_001282754.2:c.1390_1404+1del