Canonical Allele Identifier: CA2419211452

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226503_22226506delinsTTTA , CM000685.2:g.22226503_22226506delinsTTTA	GRCh38
NC_000023.10:g.22244620_22244623delinsTTTA , CM000685.1:g.22244620_22244623delinsTTTA	GRCh37
NC_000023.9:g.22154541_22154544delinsTTTA	NCBI36
NG_007563.2:g.198700_198703delinsTTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.514_*2delinsTTTA (PHEX)
ENST00000683162.1:c.514_517delinsTTTA (PHEX)	ENSP00000508059.1:p.Phe172=
ENST00000683289.1:c.514_517delinsTTTA (PHEX)	ENSP00000508195.1:p.Phe172=
ENST00000683917.1:n.744_747delinsTTTA (PHEX)
ENST00000684356.1:c.514_517delinsTTTA (PHEX)	ENSP00000507619.1:p.Phe172=
ENST00000684745.1:n.1634_1637delinsTTTA (PHEX)
ENST00000379374.5:c.1960_1963delinsTTTA (PHEX) MANE Select	ENSP00000368682.4:p.Phe654=
ENST00000379374.4:c.1960_1963delinsTTTA (PHEX)	ENSP00000368682.4:p.Phe654=
NM_000444.5:c.1960_1963delinsTTTA (PHEX)	NP_000435.3:p.Phe654=
NM_001282754.1:c.1960_1963delinsTTTA (PHEX)	NP_001269683.1:p.Phe654=
XM_011545533.1:c.1204_1207delinsTTTA (PHEX)	XP_011543835.1:p.Phe402=
XM_011545534.1:c.1204_1207delinsTTTA (PHEX)	XP_011543836.1:p.Phe402=
XM_011545536.1:c.853_856delinsTTTA (PHEX)	XP_011543838.1:p.Phe285=
XR_950534.1:n.326-483_326-480delinsTAAA
NR_073010.2:n.1048+964_1048+967delinsTAAA (PTCHD1-AS)
XM_011545536.2:c.853_856delinsTTTA (PHEX)	XP_011543838.1:p.Phe285=
XM_017029579.1:c.1204_1207delinsTTTA (PHEX)	XP_016885068.1:p.Phe402=
XM_024452390.1:c.1669_1672delinsTTTA (PHEX)	XP_024308158.1:p.Phe557=
XR_001755695.1:n.2800_2803delinsTTTA (PHEX)
NM_000444.6:c.1960_1963delinsTTTA (PHEX) MANE Select	NP_000435.3:p.Phe654=
NM_001282754.2:c.1960_1963delinsTTTA (PHEX)	NP_001269683.1:p.Phe654=