Canonical Allele Identifier: CA2693308569

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22248153-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248154_22248155del , CM000685.2:g.22248154_22248155del	GRCh38
NC_000023.10:g.22266271_22266272del , CM000685.1:g.22266271_22266272del	GRCh37
NC_000023.9:g.22176192_22176193del	NCBI36
NG_007563.2:g.220351_220352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*389_*390del (PHEX)	ENSP00000508059.1:n.*389_*390del
ENST00000683289.1:c.624+20543_624+20544del (PHEX)	ENSP00000508195.1:n.624+20543_624+20544del
ENST00000683917.1:n.1158+77_1158+78del (PHEX)
ENST00000684356.1:c.*201_*202del (PHEX)	ENSP00000507619.1:n.*201_*202del
ENST00000684745.1:n.2125_2126del (PHEX)
ENST00000379374.5:c.*201_*202del (PHEX) MANE Select	ENSP00000368682.4:n.*201_*202del
ENST00000379374.4:c.*201_*202del (PHEX)	ENSP00000368682.4:n.*201_*202del
NM_000444.5:c.*201_*202del (PHEX)	NP_000435.3:n.*201_*202del
NM_001282754.1:c.*286_*287del (PHEX)	NP_001269683.1:n.*286_*287del
XM_011545533.1:c.*201_*202del (PHEX)	XP_011543835.1:n.*201_*202del
XM_011545534.1:c.*201_*202del (PHEX)	XP_011543836.1:n.*201_*202del
XM_011545536.1:c.*201_*202del (PHEX)	XP_011543838.1:n.*201_*202del
XR_950533.1:n.140+5784_140+5785del
XR_950534.1:n.127+5784_127+5785del
NR_073010.2:n.850+5784_850+5785del (PTCHD1-AS)
XM_011545536.2:c.*201_*202del (PHEX)	XP_011543838.1:n.*201_*202del
XM_017029579.1:c.*201_*202del (PHEX)	XP_016885068.1:n.*201_*202del
XM_024452390.1:c.*201_*202del (PHEX)	XP_024308158.1:n.*201_*202del
XR_001755695.1:n.3291_3292del (PHEX)
NM_000444.6:c.*201_*202del (PHEX) MANE Select	NP_000435.3:n.*201_*202del
NM_001282754.2:c.*286_*287del (PHEX)	NP_001269683.1:n.*286_*287del