Canonical Allele Identifier: CA920401329

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1602442937

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247983_22247984del , CM000685.2:g.22247983_22247984del	GRCh38
NC_000023.10:g.22266100_22266101del , CM000685.1:g.22266100_22266101del	GRCh37
NC_000023.9:g.22176021_22176022del	NCBI36
NG_007563.2:g.220180_220181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*218_*219del (PHEX)	ENSP00000508059.1:n.*218_*219del
ENST00000683289.1:c.624+20372_624+20373del (PHEX)	ENSP00000508195.1:n.624+20372_624+20373del
ENST00000683917.1:n.1064_1065del (PHEX)
ENST00000684356.1:c.*30_*31del (PHEX)	ENSP00000507619.1:n.*30_*31del
ENST00000684745.1:n.1954_1955del (PHEX)
ENST00000379374.5:c.*30_*31del (PHEX) MANE Select	ENSP00000368682.4:n.*30_*31del
ENST00000379374.4:c.*30_*31del (PHEX)	ENSP00000368682.4:n.*30_*31del
NM_000444.5:c.*30_*31del (PHEX)	NP_000435.3:n.*30_*31del
NM_001282754.1:c.*115_*116del (PHEX)	NP_001269683.1:n.*115_*116del
XM_011545533.1:c.*30_*31del (PHEX)	XP_011543835.1:n.*30_*31del
XM_011545534.1:c.*30_*31del (PHEX)	XP_011543836.1:n.*30_*31del
XM_011545536.1:c.*30_*31del (PHEX)	XP_011543838.1:n.*30_*31del
XR_950533.1:n.140+5956_140+5957del
XR_950534.1:n.127+5956_127+5957del
NR_073010.2:n.850+5956_850+5957del (PTCHD1-AS)
XM_011545536.2:c.*30_*31del (PHEX)	XP_011543838.1:n.*30_*31del
XM_017029579.1:c.*30_*31del (PHEX)	XP_016885068.1:n.*30_*31del
XM_024452390.1:c.*30_*31del (PHEX)	XP_024308158.1:n.*30_*31del
XR_001755695.1:n.3120_3121del (PHEX)
NM_000444.6:c.*30_*31del (PHEX) MANE Select	NP_000435.3:n.*30_*31del
NM_001282754.2:c.*115_*116del (PHEX)	NP_001269683.1:n.*115_*116del