Canonical Allele Identifier: CA2573158539

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1436322
• ClinVar RCV Id: RCV001974733
• dbSNP Id: rs2147174604

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221717_22221720dup , CM000685.2:g.22221717_22221720dup	GRCh38
NC_000023.10:g.22239834_22239837dup , CM000685.1:g.22239834_22239837dup	GRCh37
NC_000023.9:g.22149755_22149758dup	NCBI36
NG_007563.2:g.193914_193917dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.427_430dup (PHEX)	ENSP00000508003.1:p.Tyr144LeufsTer22
ENST00000683162.1:c.427_430dup (PHEX)	ENSP00000508059.1:p.Tyr144LeufsTer22
ENST00000683289.1:c.427_430dup (PHEX)	ENSP00000508195.1:p.Tyr144LeufsTer22
ENST00000683917.1:n.657_660dup (PHEX)
ENST00000684356.1:c.427_430dup (PHEX)	ENSP00000507619.1:p.Tyr144LeufsTer22
ENST00000684745.1:n.1547_1550dup (PHEX)
ENST00000379374.5:c.1873_1876dup (PHEX) MANE Select	ENSP00000368682.4:p.Tyr626LeufsTer22
ENST00000379374.4:c.1873_1876dup (PHEX)	ENSP00000368682.4:p.Tyr626LeufsTer22
NM_000444.5:c.1873_1876dup (PHEX)	NP_000435.3:p.Tyr626LeufsTer22
NM_001282754.1:c.1873_1876dup (PHEX)	NP_001269683.1:p.Tyr626LeufsTer22
XM_011545533.1:c.1117_1120dup (PHEX)	XP_011543835.1:p.Tyr374LeufsTer22
XM_011545534.1:c.1117_1120dup (PHEX)	XP_011543836.1:p.Tyr374LeufsTer22
XM_011545536.1:c.766_769dup (PHEX)	XP_011543838.1:p.Tyr257LeufsTer22
NR_073010.2:n.1048+5750_1048+5753dup (PTCHD1-AS)
XM_011545536.2:c.766_769dup (PHEX)	XP_011543838.1:p.Tyr257LeufsTer22
XM_017029579.1:c.1117_1120dup (PHEX)	XP_016885068.1:p.Tyr374LeufsTer22
XM_024452390.1:c.1582_1585dup (PHEX)	XP_024308158.1:p.Tyr529LeufsTer22
XR_001755695.1:n.2713_2716dup (PHEX)
NM_000444.6:c.1873_1876dup (PHEX) MANE Select	NP_000435.3:p.Tyr626LeufsTer22
NM_001282754.2:c.1873_1876dup (PHEX)	NP_001269683.1:p.Tyr626LeufsTer22