Canonical Allele Identifier: CA657761331

Gene: PHEX PTCHD1-AS

Linked Data

• COSMIC: COSN24315879

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248068_22248069insT , CM000685.2:g.22248068_22248069insT	GRCh38
NC_000023.10:g.22266185_22266186insT , CM000685.1:g.22266185_22266186insT	GRCh37
NC_000023.9:g.22176106_22176107insT	NCBI36
NG_007563.2:g.220265_220266insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*303_*304insT (PHEX)	ENSP00000508059.1:n.*303_*304insT
ENST00000683289.1:c.624+20457_624+20458insT (PHEX)	ENSP00000508195.1:n.624+20457_624+20458insT
ENST00000683917.1:n.1149_1150insT (PHEX)
ENST00000684356.1:c.*115_*116insT (PHEX)	ENSP00000507619.1:n.*115_*116insT
ENST00000684745.1:n.2039_2040insT (PHEX)
ENST00000379374.5:c.*115_*116insT (PHEX) MANE Select	ENSP00000368682.4:n.*115_*116insT
ENST00000379374.4:c.*115_*116insT (PHEX)	ENSP00000368682.4:n.*115_*116insT
NM_000444.5:c.*115_*116insT (PHEX)	NP_000435.3:n.*115_*116insT
NM_001282754.1:c.*200_*201insT (PHEX)	NP_001269683.1:n.*200_*201insT
XM_011545533.1:c.*115_*116insT (PHEX)	XP_011543835.1:n.*115_*116insT
XM_011545534.1:c.*115_*116insT (PHEX)	XP_011543836.1:n.*115_*116insT
XM_011545536.1:c.*115_*116insT (PHEX)	XP_011543838.1:n.*115_*116insT
XR_950533.1:n.140+5870_140+5871insA
XR_950534.1:n.127+5870_127+5871insA
NR_073010.2:n.850+5870_850+5871insA (PTCHD1-AS)
XM_011545536.2:c.*115_*116insT (PHEX)	XP_011543838.1:n.*115_*116insT
XM_017029579.1:c.*115_*116insT (PHEX)	XP_016885068.1:n.*115_*116insT
XM_024452390.1:c.*115_*116insT (PHEX)	XP_024308158.1:n.*115_*116insT
XR_001755695.1:n.3205_3206insT (PHEX)
NM_000444.6:c.*115_*116insT (PHEX) MANE Select	NP_000435.3:n.*115_*116insT
NM_001282754.2:c.*200_*201insT (PHEX)	NP_001269683.1:n.*200_*201insT