Canonical Allele Identifier: CA2419211396
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226405_22226409delinsGCATT , CM000685.2:g.22226405_22226409delinsGCATT GRCh38
NC_000023.10:g.22244522_22244526delinsGCATT , CM000685.1:g.22244522_22244526delinsGCATT GRCh37
NC_000023.9:g.22154443_22154447delinsGCATT NCBI36
NG_007563.2:g.198602_198606delinsGCATT

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.454-38_454-34delinsGCATT (PHEX) ENSP00000508003.1:n.454-38_454-34delinsGC...
ENST00000683162.1:c.454-38_454-34delinsGCATT (PHEX) ENSP00000508059.1:n.454-38_454-34delinsGC...
ENST00000683289.1:c.454-38_454-34delinsGCATT (PHEX) ENSP00000508195.1:n.454-38_454-34delinsGC...
ENST00000683917.1:n.684-38_684-34delinsGCATT (PHEX)
ENST00000684356.1:c.454-38_454-34delinsGCATT (PHEX) ENSP00000507619.1:n.454-38_454-34delinsGC...
ENST00000684745.1:n.1574-38_1574-34delinsGCATT (PHEX)
ENST00000379374.5:c.1900-38_1900-34delinsGCATT (PHEX) MANE Select ENSP00000368682.4:n.1900-38_1900-34delins...
ENST00000379374.4:c.1900-38_1900-34delinsGCATT (PHEX) ENSP00000368682.4:n.1900-38_1900-34delins...
NM_000444.5:c.1900-38_1900-34delinsGCATT (PHEX) NP_000435.3:n.1900-38_1900-34delinsGCATT
NM_001282754.1:c.1900-38_1900-34delinsGCATT (PHEX) NP_001269683.1:n.1900-38_1900-34delinsGCA...
XM_011545533.1:c.1144-38_1144-34delinsGCATT (PHEX) XP_011543835.1:n.1144-38_1144-34delinsGCA...
XM_011545534.1:c.1144-38_1144-34delinsGCATT (PHEX) XP_011543836.1:n.1144-38_1144-34delinsGCA...
XM_011545536.1:c.793-38_793-34delinsGCATT (PHEX) XP_011543838.1:n.793-38_793-34delinsGCATT...
XR_950534.1:n.326-386_326-382delinsAATGC
NR_073010.2:n.1048+1061_1048+1065delinsAATGC (PTCHD1-AS)
XM_011545536.2:c.793-38_793-34delinsGCATT (PHEX) XP_011543838.1:n.793-38_793-34delinsGCATT...
XM_017029579.1:c.1144-38_1144-34delinsGCATT (PHEX) XP_016885068.1:n.1144-38_1144-34delinsGCA...
XM_024452390.1:c.1609-38_1609-34delinsGCATT (PHEX) XP_024308158.1:n.1609-38_1609-34delinsGCA...
XR_001755695.1:n.2740-38_2740-34delinsGCATT (PHEX)
NM_000444.6:c.1900-38_1900-34delinsGCATT (PHEX) MANE Select NP_000435.3:n.1900-38_1900-34delinsGCATT
NM_001282754.2:c.1900-38_1900-34delinsGCATT (PHEX) NP_001269683.1:n.1900-38_1900-34delinsGCA...