Canonical Allele Identifier: CA2580616907

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2573409
• ClinVar RCV Id: RCV003317745

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226470_22226471del , CM000685.2:g.22226470_22226471del	GRCh38
NC_000023.10:g.22244587_22244588del , CM000685.1:g.22244587_22244588del	GRCh37
NC_000023.9:g.22154508_22154509del	NCBI36
NG_007563.2:g.198667_198668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.481_482del (PHEX)	ENSP00000508003.1:p.Asn161TyrfsTer3
ENST00000683162.1:c.481_482del (PHEX)	ENSP00000508059.1:p.Asn161TyrfsTer3
ENST00000683289.1:c.481_482del (PHEX)	ENSP00000508195.1:p.Asn161TyrfsTer3
ENST00000683917.1:n.711_712del (PHEX)
ENST00000684356.1:c.481_482del (PHEX)	ENSP00000507619.1:p.Asn161TyrfsTer3
ENST00000684745.1:n.1601_1602del (PHEX)
ENST00000379374.5:c.1927_1928del (PHEX) MANE Select	ENSP00000368682.4:p.Asn643TyrfsTer3
ENST00000379374.4:c.1927_1928del (PHEX)	ENSP00000368682.4:p.Asn643TyrfsTer3
NM_000444.5:c.1927_1928del (PHEX)	NP_000435.3:p.Asn643TyrfsTer3
NM_001282754.1:c.1927_1928del (PHEX)	NP_001269683.1:p.Asn643TyrfsTer3
XM_011545533.1:c.1171_1172del (PHEX)	XP_011543835.1:p.Asn391TyrfsTer3
XM_011545534.1:c.1171_1172del (PHEX)	XP_011543836.1:p.Asn391TyrfsTer3
XM_011545536.1:c.820_821del (PHEX)	XP_011543838.1:p.Asn274TyrfsTer3
XR_950534.1:n.326-446_326-445del
NR_073010.2:n.1048+1001_1048+1002del (PTCHD1-AS)
XM_011545536.2:c.820_821del (PHEX)	XP_011543838.1:p.Asn274TyrfsTer3
XM_017029579.1:c.1171_1172del (PHEX)	XP_016885068.1:p.Asn391TyrfsTer3
XM_024452390.1:c.1636_1637del (PHEX)	XP_024308158.1:p.Asn546TyrfsTer3
XR_001755695.1:n.2767_2768del (PHEX)
NM_000444.6:c.1927_1928del (PHEX) MANE Select	NP_000435.3:p.Asn643TyrfsTer3
NM_001282754.2:c.1927_1928del (PHEX)	NP_001269683.1:p.Asn643TyrfsTer3