Canonical Allele Identifier: CA16621337

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 420131
• ClinVar RCV Id: RCV000482207
• dbSNP Id: rs1556151046
• MyVariant Identifiers: chrX:g.22245624_22245627dupGCTT (hg19) ; chrX:g.22227507_22227510dupGCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227507_22227510dup , CM000685.2:g.22227507_22227510dup	GRCh38
NC_000023.10:g.22245624_22245627dup , CM000685.1:g.22245624_22245627dup	GRCh37
NC_000023.9:g.22155545_22155548dup	NCBI36
NG_007563.2:g.199704_199707dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.520_523dup (PHEX)	ENSP00000508059.1:p.Tyr175CysfsTer8
ENST00000683289.1:c.520_523dup (PHEX)	ENSP00000508195.1:p.Tyr175CysfsTer8
ENST00000683917.1:n.750_753dup (PHEX)
ENST00000684356.1:c.520_523dup (PHEX)	ENSP00000507619.1:p.Tyr175CysfsTer8
ENST00000684745.1:n.1640_1643dup (PHEX)
ENST00000379374.5:c.1966_1969dup (PHEX) MANE Select	ENSP00000368682.4:p.Tyr657CysfsTer8
ENST00000379374.4:c.1966_1969dup (PHEX)	ENSP00000368682.4:p.Tyr657CysfsTer8
NM_000444.5:c.1966_1969dup (PHEX)	NP_000435.3:p.Tyr657CysfsTer8
NM_001282754.1:c.1966_1969dup (PHEX)	NP_001269683.1:p.Tyr657CysfsTer8
XM_011545533.1:c.1210_1213dup (PHEX)	XP_011543835.1:p.Tyr405CysfsTer8
XM_011545534.1:c.1210_1213dup (PHEX)	XP_011543836.1:p.Tyr405CysfsTer8
XM_011545536.1:c.859_862dup (PHEX)	XP_011543838.1:p.Tyr288CysfsTer8
XR_950534.1:n.285_288dup
NR_073010.2:n.1008_1011dup (PTCHD1-AS)
XM_011545536.2:c.859_862dup (PHEX)	XP_011543838.1:p.Tyr288CysfsTer8
XM_017029579.1:c.1210_1213dup (PHEX)	XP_016885068.1:p.Tyr405CysfsTer8
XM_024452390.1:c.1675_1678dup (PHEX)	XP_024308158.1:p.Tyr560CysfsTer8
XR_001755695.1:n.2806_2809dup (PHEX)
NM_000444.6:c.1966_1969dup (PHEX) MANE Select	NP_000435.3:p.Tyr657CysfsTer8
NM_001282754.2:c.1966_1969dup (PHEX)	NP_001269683.1:p.Tyr657CysfsTer8