Canonical Allele Identifier: CA2419220570

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247572_22247583delinsGTTAGAAAAACT , CM000685.2:g.22247572_22247583delinsGTTAGAAAAACT	GRCh38
NC_000023.10:g.22265689_22265700delinsGTTAGAAAAACT , CM000685.1:g.22265689_22265700delinsGTTAGAAAAACT	GRCh37
NC_000023.9:g.22175610_22175621delinsGTTAGAAAAACT	NCBI36
NG_007563.2:g.219769_219780delinsGTTAGAAAAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*86-279_*86-268delinsGTTAGAAAAACT (PHEX)	ENSP00000508059.1:n.*86-279_*86-268delinsGTTAGAAAAACT
ENST00000683289.1:c.624+19961_624+19972delinsGTTAGAAAAACT (PHEX)	ENSP00000508195.1:n.624+19961_624+19972delinsGTTAGAAAAACT
ENST00000683917.1:n.932-279_932-268delinsGTTAGAAAAACT (PHEX)
ENST00000684356.1:c.702-279_702-268delinsGTTAGAAAAACT (PHEX)	ENSP00000507619.1:n.702-279_702-268delinsGTTAGAAAAACT
ENST00000684745.1:n.1822-279_1822-268delinsGTTAGAAAAACT (PHEX)
ENST00000379374.5:c.2148-279_2148-268delinsGTTAGAAAAACT (PHEX) MANE Select	ENSP00000368682.4:n.2148-279_2148-268delinsGTTAGAAAAACT
ENST00000379374.4:c.2148-279_2148-268delinsGTTAGAAAAACT (PHEX)	ENSP00000368682.4:n.2148-279_2148-268delinsGTTAGAAAAACT
NM_000444.5:c.2148-279_2148-268delinsGTTAGAAAAACT (PHEX)	NP_000435.3:n.2148-279_2148-268delinsGTTAGAAAAACT
NM_001282754.1:c.2071-279_2071-268delinsGTTAGAAAAACT (PHEX)	NP_001269683.1:n.2071-279_2071-268delinsGTTAGAAAAACT
XM_011545533.1:c.1392-279_1392-268delinsGTTAGAAAAACT (PHEX)	XP_011543835.1:n.1392-279_1392-268delinsGTTAGAAAAACT
XM_011545534.1:c.1392-279_1392-268delinsGTTAGAAAAACT (PHEX)	XP_011543836.1:n.1392-279_1392-268delinsGTTAGAAAAACT
XM_011545536.1:c.1041-279_1041-268delinsGTTAGAAAAACT (PHEX)	XP_011543838.1:n.1041-279_1041-268delinsGTTAGAAAAACT
XR_950533.1:n.140+6356_140+6367delinsAGTTTTTCTAAC
XR_950534.1:n.127+6356_127+6367delinsAGTTTTTCTAAC
NR_073010.2:n.850+6356_850+6367delinsAGTTTTTCTAAC (PTCHD1-AS)
XM_011545536.2:c.1041-279_1041-268delinsGTTAGAAAAACT (PHEX)	XP_011543838.1:n.1041-279_1041-268delinsGTTAGAAAAACT
XM_017029579.1:c.1392-279_1392-268delinsGTTAGAAAAACT (PHEX)	XP_016885068.1:n.1392-279_1392-268delinsGTTAGAAAAACT
XM_024452390.1:c.1857-279_1857-268delinsGTTAGAAAAACT (PHEX)	XP_024308158.1:n.1857-279_1857-268delinsGTTAGAAAAACT
XR_001755695.1:n.2988-279_2988-268delinsGTTAGAAAAACT (PHEX)
NM_000444.6:c.2148-279_2148-268delinsGTTAGAAAAACT (PHEX) MANE Select	NP_000435.3:n.2148-279_2148-268delinsGTTAGAAAAACT
NM_001282754.2:c.2071-279_2071-268delinsGTTAGAAAAACT (PHEX)	NP_001269683.1:n.2071-279_2071-268delinsGTTAGAAAAACT