Canonical Allele Identifier: CA2419220592

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247628_22247660delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA , CM000685.2:g.22247628_22247660delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA	GRCh38
NC_000023.10:g.22265745_22265777delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA , CM000685.1:g.22265745_22265777delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA	GRCh37
NC_000023.9:g.22175666_22175698delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA	NCBI36
NG_007563.2:g.219825_219857delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*86-223_*86-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	ENSP00000508059.1:n.*86-223_*86-191delinsCGAAGAGTAATAGGGGCATG...
ENST00000683289.1:c.624+20017_624+20049delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	ENSP00000508195.1:n.624+20017_624+20049delinsCGAAGAGTAATAGGGG...
ENST00000683917.1:n.932-223_932-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)
ENST00000684356.1:c.702-223_702-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	ENSP00000507619.1:n.702-223_702-191delinsCGAAGAGTAATAGGGGCATG...
ENST00000684745.1:n.1822-223_1822-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)
ENST00000379374.5:c.2148-223_2148-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX) MANE Select	ENSP00000368682.4:n.2148-223_2148-191delinsCGAAGAGTAATAGGGGCA...
ENST00000379374.4:c.2148-223_2148-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	ENSP00000368682.4:n.2148-223_2148-191delinsCGAAGAGTAATAGGGGCA...
NM_000444.5:c.2148-223_2148-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	NP_000435.3:n.2148-223_2148-191delinsCGAAGAGTAATAGGGGCATGTGCT...
NM_001282754.1:c.2071-223_2071-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	NP_001269683.1:n.2071-223_2071-191delinsCGAAGAGTAATAGGGGCATGT...
XM_011545533.1:c.1392-223_1392-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	XP_011543835.1:n.1392-223_1392-191delinsCGAAGAGTAATAGGGGCATGT...
XM_011545534.1:c.1392-223_1392-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	XP_011543836.1:n.1392-223_1392-191delinsCGAAGAGTAATAGGGGCATGT...
XM_011545536.1:c.1041-223_1041-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	XP_011543838.1:n.1041-223_1041-191delinsCGAAGAGTAATAGGGGCATGT...
XR_950533.1:n.140+6279_140+6311delinsTGAATGCCAAGCACATGCCCCTATTACTCTTCG
XR_950534.1:n.127+6279_127+6311delinsTGAATGCCAAGCACATGCCCCTATTACTCTTCG
NR_073010.2:n.850+6279_850+6311delinsTGAATGCCAAGCACATGCCCCTATTACTCTTCG (PTCHD1-AS)
XM_011545536.2:c.1041-223_1041-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	XP_011543838.1:n.1041-223_1041-191delinsCGAAGAGTAATAGGGGCATGT...
XM_017029579.1:c.1392-223_1392-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	XP_016885068.1:n.1392-223_1392-191delinsCGAAGAGTAATAGGGGCATGT...
XM_024452390.1:c.1857-223_1857-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	XP_024308158.1:n.1857-223_1857-191delinsCGAAGAGTAATAGGGGCATGT...
XR_001755695.1:n.2988-223_2988-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)
NM_000444.6:c.2148-223_2148-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX) MANE Select	NP_000435.3:n.2148-223_2148-191delinsCGAAGAGTAATAGGGGCATGTGCT...
NM_001282754.2:c.2071-223_2071-191delinsCGAAGAGTAATAGGGGCATGTGCTTGGCATTCA (PHEX)	NP_001269683.1:n.2071-223_2071-191delinsCGAAGAGTAATAGGGGCATGT...