Canonical Allele Identifier: CA2739268118

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2866352
• ClinVar RCV Id: RCV003705156

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227515del , CM000685.2:g.22227515del	GRCh38
NC_000023.10:g.22245632del , CM000685.1:g.22245632del	GRCh37
NC_000023.9:g.22155553del	NCBI36
NG_007563.2:g.199712del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.528del (PHEX)	ENSP00000508059.1:p.Lys177AsnfsTer3
ENST00000683289.1:c.528del (PHEX)	ENSP00000508195.1:p.Lys177AsnfsTer3
ENST00000683917.1:n.758del (PHEX)
ENST00000684356.1:c.528del (PHEX)	ENSP00000507619.1:p.Lys177AsnfsTer3
ENST00000684745.1:n.1648del (PHEX)
ENST00000379374.5:c.1974del (PHEX) MANE Select	ENSP00000368682.4:p.Lys659AsnfsTer3
ENST00000379374.4:c.1974del (PHEX)	ENSP00000368682.4:p.Lys659AsnfsTer3
NM_000444.5:c.1974del (PHEX)	NP_000435.3:p.Lys659AsnfsTer3
NM_001282754.1:c.1974del (PHEX)	NP_001269683.1:p.Lys659AsnfsTer3
XM_011545533.1:c.1218del (PHEX)	XP_011543835.1:p.Lys407AsnfsTer3
XM_011545534.1:c.1218del (PHEX)	XP_011543836.1:p.Lys407AsnfsTer3
XM_011545536.1:c.867del (PHEX)	XP_011543838.1:p.Lys290AsnfsTer3
XR_950534.1:n.281del
NR_073010.2:n.1004del (PTCHD1-AS)
XM_011545536.2:c.867del (PHEX)	XP_011543838.1:p.Lys290AsnfsTer3
XM_017029579.1:c.1218del (PHEX)	XP_016885068.1:p.Lys407AsnfsTer3
XM_024452390.1:c.1683del (PHEX)	XP_024308158.1:p.Lys562AsnfsTer3
XR_001755695.1:n.2814del (PHEX)
NM_000444.6:c.1974del (PHEX) MANE Select	NP_000435.3:p.Lys659AsnfsTer3
NM_001282754.2:c.1974del (PHEX)	NP_001269683.1:p.Lys659AsnfsTer3