Canonical Allele Identifier: CA873947951

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1274806662
• MyVariant Identifiers: chrX:g.22237001_22237002insT (hg19) ; chrX:g.22218884_22218885insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22218890dup , CM000685.2:g.22218890dup	GRCh38
NC_000023.10:g.22237007dup , CM000685.1:g.22237007dup	GRCh37
NC_000023.9:g.22146928dup	NCBI36
NG_007563.2:g.191087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.255-146dup (PHEX)	ENSP00000508003.1:n.255-146dup
ENST00000683162.1:c.255-146dup (PHEX)	ENSP00000508059.1:n.255-146dup
ENST00000683289.1:c.255-146dup (PHEX)	ENSP00000508195.1:n.255-146dup
ENST00000683917.1:n.485-146dup (PHEX)
ENST00000684356.1:c.255-146dup (PHEX)	ENSP00000507619.1:n.255-146dup
ENST00000684745.1:n.1375-146dup (PHEX)
ENST00000379374.5:c.1701-146dup (PHEX) MANE Select	ENSP00000368682.4:n.1701-146dup
ENST00000379374.4:c.1701-146dup (PHEX)	ENSP00000368682.4:n.1701-146dup
NM_000444.5:c.1701-146dup (PHEX)	NP_000435.3:n.1701-146dup
NM_001282754.1:c.1701-146dup (PHEX)	NP_001269683.1:n.1701-146dup
XM_011545533.1:c.945-146dup (PHEX)	XP_011543835.1:n.945-146dup
XM_011545534.1:c.945-146dup (PHEX)	XP_011543836.1:n.945-146dup
XM_011545536.1:c.594-146dup (PHEX)	XP_011543838.1:n.594-146dup
NR_073010.2:n.1048+8585dup (PTCHD1-AS)
XM_011545536.2:c.594-146dup (PHEX)	XP_011543838.1:n.594-146dup
XM_017029579.1:c.945-146dup (PHEX)	XP_016885068.1:n.945-146dup
XM_024452390.1:c.1410-146dup (PHEX)	XP_024308158.1:n.1410-146dup
XR_001755695.1:n.2541-146dup (PHEX)
NM_000444.6:c.1701-146dup (PHEX) MANE Select	NP_000435.3:n.1701-146dup
NM_001282754.2:c.1701-146dup (PHEX)	NP_001269683.1:n.1701-146dup