Canonical Allele Identifier: CA2695232348

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22219067_22219080del , CM000685.2:g.22219067_22219080del	GRCh38
NC_000023.10:g.22237184_22237197del , CM000685.1:g.22237184_22237197del	GRCh37
NC_000023.9:g.22147105_22147118del	NCBI36
NG_007563.2:g.191264_191277del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.286_299del (PHEX)	ENSP00000508003.1:p.Val96TyrfsTer5
ENST00000683162.1:c.286_299del (PHEX)	ENSP00000508059.1:p.Val96TyrfsTer5
ENST00000683289.1:c.286_299del (PHEX)	ENSP00000508195.1:p.Val96TyrfsTer5
ENST00000683917.1:n.516_529del (PHEX)
ENST00000684356.1:c.286_299del (PHEX)	ENSP00000507619.1:p.Val96TyrfsTer5
ENST00000684745.1:n.1406_1419del (PHEX)
ENST00000379374.5:c.1732_1745del (PHEX) MANE Select	ENSP00000368682.4:p.Val578TyrfsTer5
ENST00000379374.4:c.1732_1745del (PHEX)	ENSP00000368682.4:p.Val578TyrfsTer5
NM_000444.5:c.1732_1745del (PHEX)	NP_000435.3:p.Val578TyrfsTer5
NM_001282754.1:c.1732_1745del (PHEX)	NP_001269683.1:p.Val578TyrfsTer5
XM_011545533.1:c.976_989del (PHEX)	XP_011543835.1:p.Val326TyrfsTer5
XM_011545534.1:c.976_989del (PHEX)	XP_011543836.1:p.Val326TyrfsTer5
XM_011545536.1:c.625_638del (PHEX)	XP_011543838.1:p.Val209TyrfsTer5
NR_073010.2:n.1048+8394_1048+8407del (PTCHD1-AS)
XM_011545536.2:c.625_638del (PHEX)	XP_011543838.1:p.Val209TyrfsTer5
XM_017029579.1:c.976_989del (PHEX)	XP_016885068.1:p.Val326TyrfsTer5
XM_024452390.1:c.1441_1454del (PHEX)	XP_024308158.1:p.Val481TyrfsTer5
XR_001755695.1:n.2572_2585del (PHEX)
NM_000444.6:c.1732_1745del (PHEX) MANE Select	NP_000435.3:p.Val578TyrfsTer5
NM_001282754.2:c.1732_1745del (PHEX)	NP_001269683.1:p.Val578TyrfsTer5