Canonical Allele Identifier: CA658824113

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 546044
• ClinVar RCV Id: RCV000657811
• dbSNP Id: rs1556205980
• MyVariant Identifiers: chrX:g.22265991_22265992del (hg19) ; chrX:g.22247874_22247875del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247874_22247875del , CM000685.2:g.22247874_22247875del	GRCh38
NC_000023.10:g.22265991_22265992del , CM000685.1:g.22265991_22265992del	GRCh37
NC_000023.9:g.22175912_22175913del	NCBI36
NG_007563.2:g.220071_220072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*109_*110del (PHEX)	ENSP00000508059.1:n.*109_*110del
ENST00000683289.1:c.624+20263_624+20264del (PHEX)	ENSP00000508195.1:n.624+20263_624+20264del
ENST00000683917.1:n.955_956del (PHEX)
ENST00000684356.1:c.725_726del (PHEX)	ENSP00000507619.1:p.Phe242Ter
ENST00000684745.1:n.1845_1846del (PHEX)
ENST00000379374.5:c.2171_2172del (PHEX) MANE Select	ENSP00000368682.4:p.Phe724Ter
ENST00000379374.4:c.2171_2172del (PHEX)	ENSP00000368682.4:p.Phe724Ter
NM_000444.5:c.2171_2172del (PHEX)	NP_000435.3:p.Phe724Ter
NM_001282754.1:c.*6_*7del (PHEX)	NP_001269683.1:n.*6_*7del
XM_011545533.1:c.1415_1416del (PHEX)	XP_011543835.1:p.Phe472Ter
XM_011545534.1:c.1415_1416del (PHEX)	XP_011543836.1:p.Phe472Ter
XM_011545536.1:c.1064_1065del (PHEX)	XP_011543838.1:p.Phe355Ter
XR_950533.1:n.140+6065_140+6066del
XR_950534.1:n.127+6065_127+6066del
NR_073010.2:n.850+6065_850+6066del (PTCHD1-AS)
XM_011545536.2:c.1064_1065del (PHEX)	XP_011543838.1:p.Phe355Ter
XM_017029579.1:c.1415_1416del (PHEX)	XP_016885068.1:p.Phe472Ter
XM_024452390.1:c.1880_1881del (PHEX)	XP_024308158.1:p.Phe627Ter
XR_001755695.1:n.3011_3012del (PHEX)
NM_000444.6:c.2171_2172del (PHEX) MANE Select	NP_000435.3:p.Phe724Ter
NM_001282754.2:c.*6_*7del (PHEX)	NP_001269683.1:n.*6_*7del