Canonical Allele Identifier: CA2512725454

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247681_22247682del , CM000685.2:g.22247681_22247682del	GRCh38
NC_000023.10:g.22265798_22265799del , CM000685.1:g.22265798_22265799del	GRCh37
NC_000023.9:g.22175719_22175720del	NCBI36
NG_007563.2:g.219878_219879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*86-170_*86-169del (PHEX)	ENSP00000508059.1:n.*86-170_*86-169del
ENST00000683289.1:c.624+20070_624+20071del (PHEX)	ENSP00000508195.1:n.624+20070_624+20071del
ENST00000683917.1:n.932-170_932-169del (PHEX)
ENST00000684356.1:c.702-170_702-169del (PHEX)	ENSP00000507619.1:n.702-170_702-169del
ENST00000684745.1:n.1822-170_1822-169del (PHEX)
ENST00000379374.5:c.2148-170_2148-169del (PHEX) MANE Select	ENSP00000368682.4:n.2148-170_2148-169del
ENST00000379374.4:c.2148-170_2148-169del (PHEX)	ENSP00000368682.4:n.2148-170_2148-169del
NM_000444.5:c.2148-170_2148-169del (PHEX)	NP_000435.3:n.2148-170_2148-169del
NM_001282754.1:c.2071-170_2071-169del (PHEX)	NP_001269683.1:n.2071-170_2071-169del
XM_011545533.1:c.1392-170_1392-169del (PHEX)	XP_011543835.1:n.1392-170_1392-169del
XM_011545534.1:c.1392-170_1392-169del (PHEX)	XP_011543836.1:n.1392-170_1392-169del
XM_011545536.1:c.1041-170_1041-169del (PHEX)	XP_011543838.1:n.1041-170_1041-169del
XR_950533.1:n.140+6258_140+6259del
XR_950534.1:n.127+6258_127+6259del
NR_073010.2:n.850+6258_850+6259del (PTCHD1-AS)
XM_011545536.2:c.1041-170_1041-169del (PHEX)	XP_011543838.1:n.1041-170_1041-169del
XM_017029579.1:c.1392-170_1392-169del (PHEX)	XP_016885068.1:n.1392-170_1392-169del
XM_024452390.1:c.1857-170_1857-169del (PHEX)	XP_024308158.1:n.1857-170_1857-169del
XR_001755695.1:n.2988-170_2988-169del (PHEX)
NM_000444.6:c.2148-170_2148-169del (PHEX) MANE Select	NP_000435.3:n.2148-170_2148-169del
NM_001282754.2:c.2071-170_2071-169del (PHEX)	NP_001269683.1:n.2071-170_2071-169del