Canonical Allele Identifier: CA16043234
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 372776
ClinVar RCV Id: RCV000414105
dbSNP Id: rs1057517979

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22219062_22219073del , CM000685.2:g.22219062_22219073del GRCh38
NC_000023.10:g.22237179_22237190del , CM000685.1:g.22237179_22237190del GRCh37
NC_000023.9:g.22147100_22147111del NCBI36
NG_007563.2:g.191259_191270del

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.281_292del (PHEX) ENSP00000508003.1:p.Val94_His98delinsAsp
ENST00000683162.1:c.281_292del (PHEX) ENSP00000508059.1:p.Val94_His98delinsAsp
ENST00000683289.1:c.281_292del (PHEX) ENSP00000508195.1:p.Val94_His98delinsAsp
ENST00000683917.1:n.511_522del (PHEX)
ENST00000684356.1:c.281_292del (PHEX) ENSP00000507619.1:p.Val94_His98delinsAsp
ENST00000684745.1:n.1401_1412del (PHEX)
ENST00000379374.5:c.1727_1738del (PHEX) MANE Select ENSP00000368682.4:p.Val576_His580delinsAs...
ENST00000379374.4:c.1727_1738del (PHEX) ENSP00000368682.4:p.Val576_His580delinsAs...
NM_000444.5:c.1727_1738del (PHEX) NP_000435.3:p.Val576_His580delinsAsp
NM_001282754.1:c.1727_1738del (PHEX) NP_001269683.1:p.Val576_His580delinsAsp
XM_011545533.1:c.971_982del (PHEX) XP_011543835.1:p.Val324_His328delinsAsp
XM_011545534.1:c.971_982del (PHEX) XP_011543836.1:p.Val324_His328delinsAsp
XM_011545536.1:c.620_631del (PHEX) XP_011543838.1:p.Val207_His211delinsAsp
NR_073010.2:n.1048+8397_1048+8408del (PTCHD1-AS)
XM_011545536.2:c.620_631del (PHEX) XP_011543838.1:p.Val207_His211delinsAsp
XM_017029579.1:c.971_982del (PHEX) XP_016885068.1:p.Val324_His328delinsAsp
XM_024452390.1:c.1436_1447del (PHEX) XP_024308158.1:p.Val479_His483delinsAsp
XR_001755695.1:n.2567_2578del (PHEX)
NM_000444.6:c.1727_1738del (PHEX) MANE Select NP_000435.3:p.Val576_His580delinsAsp
NM_001282754.2:c.1727_1738del (PHEX) NP_001269683.1:p.Val576_His580delinsAsp