Canonical Allele Identifier: CA10603580

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 280420
• ClinVar RCV Id: RCV000307183 ; RCV000505421
• dbSNP Id: rs886041631
• MyVariant Identifiers: chrX:g.22266013del (hg19) ; chrX:g.22247896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247896del , CM000685.2:g.22247896del	GRCh38
NC_000023.10:g.22266013del , CM000685.1:g.22266013del	GRCh37
NC_000023.9:g.22175934del	NCBI36
NG_007563.2:g.220093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*131del (PHEX)	ENSP00000508059.1:n.*131del
ENST00000683289.1:c.624+20285del (PHEX)	ENSP00000508195.1:n.624+20285del
ENST00000683917.1:n.977del (PHEX)
ENST00000684356.1:c.747del (PHEX)	ENSP00000507619.1:p.Phe249LeufsTer9
ENST00000684745.1:n.1867del (PHEX)
ENST00000379374.5:c.2193del (PHEX) MANE Select	ENSP00000368682.4:p.Phe731LeufsTer9
ENST00000379374.4:c.2193del (PHEX)	ENSP00000368682.4:p.Phe731LeufsTer9
NM_000444.5:c.2193del (PHEX)	NP_000435.3:p.Phe731LeufsTer9
NM_001282754.1:c.*28del (PHEX)	NP_001269683.1:n.*28del
XM_011545533.1:c.1437del (PHEX)	XP_011543835.1:p.Phe479LeufsTer9
XM_011545534.1:c.1437del (PHEX)	XP_011543836.1:p.Phe479LeufsTer9
XM_011545536.1:c.1086del (PHEX)	XP_011543838.1:p.Phe362LeufsTer9
XR_950533.1:n.140+6046del
XR_950534.1:n.127+6046del
NR_073010.2:n.850+6046del (PTCHD1-AS)
XM_011545536.2:c.1086del (PHEX)	XP_011543838.1:p.Phe362LeufsTer9
XM_017029579.1:c.1437del (PHEX)	XP_016885068.1:p.Phe479LeufsTer9
XM_024452390.1:c.1902del (PHEX)	XP_024308158.1:p.Phe634LeufsTer9
XR_001755695.1:n.3033del (PHEX)
NM_000444.6:c.2193del (PHEX) MANE Select	NP_000435.3:p.Phe731LeufsTer9
NM_001282754.2:c.*28del (PHEX)	NP_001269683.1:n.*28del