Canonical Allele Identifier: CA10368401

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs749803858
• ExAC: X:22244659 ATC / A
• MyVariant Identifiers: chrX:g.22244660_22244661del (hg19) ; chrX:g.22226543_22226544del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226543_22226544del , CM000685.2:g.22226543_22226544del	GRCh38
NC_000023.10:g.22244660_22244661del , CM000685.1:g.22244660_22244661del	GRCh37
NC_000023.9:g.22154581_22154582del	NCBI36
NG_007563.2:g.198740_198741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.519+35_519+36del (PHEX)	ENSP00000508059.1:n.519+35_519+36del
ENST00000683289.1:c.519+35_519+36del (PHEX)	ENSP00000508195.1:n.519+35_519+36del
ENST00000683917.1:n.749+35_749+36del (PHEX)
ENST00000684356.1:c.519+35_519+36del (PHEX)	ENSP00000507619.1:n.519+35_519+36del
ENST00000684745.1:n.1639+35_1639+36del (PHEX)
ENST00000379374.5:c.1965+35_1965+36del (PHEX) MANE Select	ENSP00000368682.4:n.1965+35_1965+36del
ENST00000379374.4:c.1965+35_1965+36del (PHEX)	ENSP00000368682.4:n.1965+35_1965+36del
NM_000444.5:c.1965+35_1965+36del (PHEX)	NP_000435.3:n.1965+35_1965+36del
NM_001282754.1:c.1965+35_1965+36del (PHEX)	NP_001269683.1:n.1965+35_1965+36del
XM_011545533.1:c.1209+35_1209+36del (PHEX)	XP_011543835.1:n.1209+35_1209+36del
XM_011545534.1:c.1209+35_1209+36del (PHEX)	XP_011543836.1:n.1209+35_1209+36del
XM_011545536.1:c.858+35_858+36del (PHEX)	XP_011543838.1:n.858+35_858+36del
XR_950534.1:n.326-521_326-520del
NR_073010.2:n.1048+926_1048+927del (PTCHD1-AS)
XM_011545536.2:c.858+35_858+36del (PHEX)	XP_011543838.1:n.858+35_858+36del
XM_017029579.1:c.1209+35_1209+36del (PHEX)	XP_016885068.1:n.1209+35_1209+36del
XM_024452390.1:c.1674+35_1674+36del (PHEX)	XP_024308158.1:n.1674+35_1674+36del
XR_001755695.1:n.2805+35_2805+36del (PHEX)
NM_000444.6:c.1965+35_1965+36del (PHEX) MANE Select	NP_000435.3:n.1965+35_1965+36del
NM_001282754.2:c.1965+35_1965+36del (PHEX)	NP_001269683.1:n.1965+35_1965+36del