Canonical Allele Identifier: CA2739268124

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2809224
• ClinVar RCV Id: RCV003677387

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247884_22247894del , CM000685.2:g.22247884_22247894del	GRCh38
NC_000023.10:g.22266001_22266011del , CM000685.1:g.22266001_22266011del	GRCh37
NC_000023.9:g.22175922_22175932del	NCBI36
NG_007563.2:g.220081_220091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*119_*129del (PHEX)	ENSP00000508059.1:n.*119_*129del
ENST00000683289.1:c.624+20273_624+20283del (PHEX)	ENSP00000508195.1:n.624+20273_624+20283del
ENST00000683917.1:n.965_975del (PHEX)
ENST00000684356.1:c.735_745del (PHEX)	ENSP00000507619.1:p.Gln246Ter
ENST00000684745.1:n.1855_1865del (PHEX)
ENST00000379374.5:c.2181_2191del (PHEX) MANE Select	ENSP00000368682.4:p.Gln728Ter
ENST00000379374.4:c.2181_2191del (PHEX)	ENSP00000368682.4:p.Gln728Ter
NM_000444.5:c.2181_2191del (PHEX)	NP_000435.3:p.Gln728Ter
NM_001282754.1:c.*16_*26del (PHEX)	NP_001269683.1:n.*16_*26del
XM_011545533.1:c.1425_1435del (PHEX)	XP_011543835.1:p.Gln476Ter
XM_011545534.1:c.1425_1435del (PHEX)	XP_011543836.1:p.Gln476Ter
XM_011545536.1:c.1074_1084del (PHEX)	XP_011543838.1:p.Gln359Ter
XR_950533.1:n.140+6047_140+6057del
XR_950534.1:n.127+6047_127+6057del
NR_073010.2:n.850+6047_850+6057del (PTCHD1-AS)
XM_011545536.2:c.1074_1084del (PHEX)	XP_011543838.1:p.Gln359Ter
XM_017029579.1:c.1425_1435del (PHEX)	XP_016885068.1:p.Gln476Ter
XM_024452390.1:c.1890_1900del (PHEX)	XP_024308158.1:p.Gln631Ter
XR_001755695.1:n.3021_3031del (PHEX)
NM_000444.6:c.2181_2191del (PHEX) MANE Select	NP_000435.3:p.Gln728Ter
NM_001282754.2:c.*16_*26del (PHEX)	NP_001269683.1:n.*16_*26del