Canonical Allele Identifier: CA2419220673

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247866_22247867delinsTA , CM000685.2:g.22247866_22247867delinsTA	GRCh38
NC_000023.10:g.22265983_22265984delinsTA , CM000685.1:g.22265983_22265984delinsTA	GRCh37
NC_000023.9:g.22175904_22175905delinsTA	NCBI36
NG_007563.2:g.220063_220064delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*101_*102delinsTA (PHEX)	ENSP00000508059.1:n.*101_*102delinsTA
ENST00000683289.1:c.624+20255_624+20256delinsTA (PHEX)	ENSP00000508195.1:n.624+20255_624+20256de...
ENST00000683917.1:n.947_948delinsTA (PHEX)
ENST00000684356.1:c.717_718delinsTA (PHEX)	ENSP00000507619.1:p.Ile239=
ENST00000684745.1:n.1837_1838delinsTA (PHEX)
ENST00000379374.5:c.2163_2164delinsTA (PHEX) MANE Select	ENSP00000368682.4:p.Ile721=
ENST00000379374.4:c.2163_2164delinsTA (PHEX)	ENSP00000368682.4:p.Ile721=
NM_000444.5:c.2163_2164delinsTA (PHEX)	NP_000435.3:p.Ile721=
NM_001282754.1:c.2086_2087delinsTA (PHEX)	NP_001269683.1:p.Ter696=
XM_011545533.1:c.1407_1408delinsTA (PHEX)	XP_011543835.1:p.Ile469=
XM_011545534.1:c.1407_1408delinsTA (PHEX)	XP_011543836.1:p.Ile469=
XM_011545536.1:c.1056_1057delinsTA (PHEX)	XP_011543838.1:p.Ile352=
XR_950533.1:n.140+6072_140+6073delinsTA
XR_950534.1:n.127+6072_127+6073delinsTA
NR_073010.2:n.850+6072_850+6073delinsTA (PTCHD1-AS)
XM_011545536.2:c.1056_1057delinsTA (PHEX)	XP_011543838.1:p.Ile352=
XM_017029579.1:c.1407_1408delinsTA (PHEX)	XP_016885068.1:p.Ile469=
XM_024452390.1:c.1872_1873delinsTA (PHEX)	XP_024308158.1:p.Ile624=
XR_001755695.1:n.3003_3004delinsTA (PHEX)
NM_000444.6:c.2163_2164delinsTA (PHEX) MANE Select	NP_000435.3:p.Ile721=
NM_001282754.2:c.2086_2087delinsTA (PHEX)	NP_001269683.1:p.Ter696=