Canonical Allele Identifier: CA10603652

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 279941
• ClinVar RCV Id: RCV000306173
• dbSNP Id: rs886041269
• MyVariant Identifiers: chrX:g.22244595_22244598dupTGAT (hg19) ; chrX:g.22226478_22226481dupTGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226478_22226481dup , CM000685.2:g.22226478_22226481dup	GRCh38
NC_000023.10:g.22244595_22244598dup , CM000685.1:g.22244595_22244598dup	GRCh37
NC_000023.9:g.22154516_22154519dup	NCBI36
NG_007563.2:g.198675_198678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.489_492dup (PHEX)	ENSP00000508003.1:p.Asn165Ter
ENST00000683162.1:c.489_492dup (PHEX)	ENSP00000508059.1:p.Asn165Ter
ENST00000683289.1:c.489_492dup (PHEX)	ENSP00000508195.1:p.Asn165Ter
ENST00000683917.1:n.719_722dup (PHEX)
ENST00000684356.1:c.489_492dup (PHEX)	ENSP00000507619.1:p.Asn165Ter
ENST00000684745.1:n.1609_1612dup (PHEX)
ENST00000379374.5:c.1935_1938dup (PHEX) MANE Select	ENSP00000368682.4:p.Asn647Ter
ENST00000379374.4:c.1935_1938dup (PHEX)	ENSP00000368682.4:p.Asn647Ter
NM_000444.5:c.1935_1938dup (PHEX)	NP_000435.3:p.Asn647Ter
NM_001282754.1:c.1935_1938dup (PHEX)	NP_001269683.1:p.Asn647Ter
XM_011545533.1:c.1179_1182dup (PHEX)	XP_011543835.1:p.Asn395Ter
XM_011545534.1:c.1179_1182dup (PHEX)	XP_011543836.1:p.Asn395Ter
XM_011545536.1:c.828_831dup (PHEX)	XP_011543838.1:p.Asn278Ter
XR_950534.1:n.326-458_326-455dup
NR_073010.2:n.1048+989_1048+992dup (PTCHD1-AS)
XM_011545536.2:c.828_831dup (PHEX)	XP_011543838.1:p.Asn278Ter
XM_017029579.1:c.1179_1182dup (PHEX)	XP_016885068.1:p.Asn395Ter
XM_024452390.1:c.1644_1647dup (PHEX)	XP_024308158.1:p.Asn550Ter
XR_001755695.1:n.2775_2778dup (PHEX)
NM_000444.6:c.1935_1938dup (PHEX) MANE Select	NP_000435.3:p.Asn647Ter
NM_001282754.2:c.1935_1938dup (PHEX)	NP_001269683.1:p.Asn647Ter