Canonical Allele Identifier: CA873950610

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1316131311
• MyVariant Identifiers: chrX:g.22241946_22241947insAAG (hg19) ; chrX:g.22223829_22223830insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22223831_22223833dup , CM000685.2:g.22223831_22223833dup	GRCh38
NC_000023.10:g.22241948_22241950dup , CM000685.1:g.22241948_22241950dup	GRCh37
NC_000023.9:g.22151869_22151871dup	NCBI36
NG_007563.2:g.196028_196030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.453+2088_453+2090dup (PHEX)	ENSP00000508003.1:n.453+2088_453+2090dup
ENST00000683162.1:c.453+2088_453+2090dup (PHEX)	ENSP00000508059.1:n.453+2088_453+2090dup
ENST00000683289.1:c.453+2088_453+2090dup (PHEX)	ENSP00000508195.1:n.453+2088_453+2090dup
ENST00000683917.1:n.683+2088_683+2090dup (PHEX)
ENST00000684356.1:c.453+2088_453+2090dup (PHEX)	ENSP00000507619.1:n.453+2088_453+2090dup
ENST00000684745.1:n.1573+2088_1573+2090dup (PHEX)
ENST00000379374.5:c.1899+2088_1899+2090dup (PHEX) MANE Select	ENSP00000368682.4:n.1899+2088_1899+2090dup
ENST00000379374.4:c.1899+2088_1899+2090dup (PHEX)	ENSP00000368682.4:n.1899+2088_1899+2090dup
NM_000444.5:c.1899+2088_1899+2090dup (PHEX)	NP_000435.3:n.1899+2088_1899+2090dup
NM_001282754.1:c.1899+2088_1899+2090dup (PHEX)	NP_001269683.1:n.1899+2088_1899+2090dup
XM_011545533.1:c.1143+2088_1143+2090dup (PHEX)	XP_011543835.1:n.1143+2088_1143+2090dup
XM_011545534.1:c.1143+2088_1143+2090dup (PHEX)	XP_011543836.1:n.1143+2088_1143+2090dup
XM_011545536.1:c.792+2088_792+2090dup (PHEX)	XP_011543838.1:n.792+2088_792+2090dup
NR_073010.2:n.1048+3638_1048+3640dup (PTCHD1-AS)
XM_011545536.2:c.792+2088_792+2090dup (PHEX)	XP_011543838.1:n.792+2088_792+2090dup
XM_017029579.1:c.1143+2088_1143+2090dup (PHEX)	XP_016885068.1:n.1143+2088_1143+2090dup
XM_024452390.1:c.1608+2088_1608+2090dup (PHEX)	XP_024308158.1:n.1608+2088_1608+2090dup
XR_001755695.1:n.2739+2088_2739+2090dup (PHEX)
NM_000444.6:c.1899+2088_1899+2090dup (PHEX) MANE Select	NP_000435.3:n.1899+2088_1899+2090dup
NM_001282754.2:c.1899+2088_1899+2090dup (PHEX)	NP_001269683.1:n.1899+2088_1899+2090dup