Canonical Allele Identifier: CA2522147433

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226278_22226307del , CM000685.2:g.22226278_22226307del	GRCh38
NC_000023.10:g.22244395_22244424del , CM000685.1:g.22244395_22244424del	GRCh37
NC_000023.9:g.22154316_22154345del	NCBI36
NG_007563.2:g.198475_198504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.454-165_454-136del (PHEX)	ENSP00000508003.1:n.454-165_454-136del
ENST00000683162.1:c.454-165_454-136del (PHEX)	ENSP00000508059.1:n.454-165_454-136del
ENST00000683289.1:c.454-165_454-136del (PHEX)	ENSP00000508195.1:n.454-165_454-136del
ENST00000683917.1:n.684-165_684-136del (PHEX)
ENST00000684356.1:c.454-165_454-136del (PHEX)	ENSP00000507619.1:n.454-165_454-136del
ENST00000684745.1:n.1574-165_1574-136del (PHEX)
ENST00000379374.5:c.1900-165_1900-136del (PHEX) MANE Select	ENSP00000368682.4:n.1900-165_1900-136del
ENST00000379374.4:c.1900-165_1900-136del (PHEX)	ENSP00000368682.4:n.1900-165_1900-136del
NM_000444.5:c.1900-165_1900-136del (PHEX)	NP_000435.3:n.1900-165_1900-136del
NM_001282754.1:c.1900-165_1900-136del (PHEX)	NP_001269683.1:n.1900-165_1900-136del
XM_011545533.1:c.1144-165_1144-136del (PHEX)	XP_011543835.1:n.1144-165_1144-136del
XM_011545534.1:c.1144-165_1144-136del (PHEX)	XP_011543836.1:n.1144-165_1144-136del
XM_011545536.1:c.793-165_793-136del (PHEX)	XP_011543838.1:n.793-165_793-136del
XR_950534.1:n.326-284_326-255del
NR_073010.2:n.1048+1163_1048+1192del (PTCHD1-AS)
XM_011545536.2:c.793-165_793-136del (PHEX)	XP_011543838.1:n.793-165_793-136del
XM_017029579.1:c.1144-165_1144-136del (PHEX)	XP_016885068.1:n.1144-165_1144-136del
XM_024452390.1:c.1609-165_1609-136del (PHEX)	XP_024308158.1:n.1609-165_1609-136del
XR_001755695.1:n.2740-165_2740-136del (PHEX)
NM_000444.6:c.1900-165_1900-136del (PHEX) MANE Select	NP_000435.3:n.1900-165_1900-136del
NM_001282754.2:c.1900-165_1900-136del (PHEX)	NP_001269683.1:n.1900-165_1900-136del