Canonical Allele Identifier: CA2695231836

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247863_22247878del , CM000685.2:g.22247863_22247878del	GRCh38
NC_000023.10:g.22265980_22265995del , CM000685.1:g.22265980_22265995del	GRCh37
NC_000023.9:g.22175901_22175916del	NCBI36
NG_007563.2:g.220060_220075del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*98_*113del (PHEX)	ENSP00000508059.1:n.*98_*113del
ENST00000683289.1:c.624+20252_624+20267del (PHEX)	ENSP00000508195.1:n.624+20252_624+20267de...
ENST00000683917.1:n.944_959del (PHEX)
ENST00000684356.1:c.714_729del (PHEX)	ENSP00000507619.1:p.Ile239AsnfsTer14
ENST00000684745.1:n.1834_1849del (PHEX)
ENST00000379374.5:c.2160_2175del (PHEX) MANE Select	ENSP00000368682.4:p.Ile721AsnfsTer14
ENST00000379374.4:c.2160_2175del (PHEX)	ENSP00000368682.4:p.Ile721AsnfsTer14
NM_000444.5:c.2160_2175del (PHEX)	NP_000435.3:p.Ile721AsnfsTer14
NM_001282754.1:c.2083_*10del (PHEX)	NP_001269683.1:n.[c.2083_*10del;Asn695Glu...
XM_011545533.1:c.1404_1419del (PHEX)	XP_011543835.1:p.Ile469AsnfsTer14
XM_011545534.1:c.1404_1419del (PHEX)	XP_011543836.1:p.Ile469AsnfsTer14
XM_011545536.1:c.1053_1068del (PHEX)	XP_011543838.1:p.Ile352AsnfsTer14
XR_950533.1:n.140+6061_140+6076del
XR_950534.1:n.127+6061_127+6076del
NR_073010.2:n.850+6061_850+6076del (PTCHD1-AS)
XM_011545536.2:c.1053_1068del (PHEX)	XP_011543838.1:p.Ile352AsnfsTer14
XM_017029579.1:c.1404_1419del (PHEX)	XP_016885068.1:p.Ile469AsnfsTer14
XM_024452390.1:c.1869_1884del (PHEX)	XP_024308158.1:p.Ile624AsnfsTer14
XR_001755695.1:n.3000_3015del (PHEX)
NM_000444.6:c.2160_2175del (PHEX) MANE Select	NP_000435.3:p.Ile721AsnfsTer14
NM_001282754.2:c.2083_*10del (PHEX)	NP_001269683.1:n.[c.2083_*10del;Asn695Glu...