Canonical Allele Identifier: CA2419220638

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1936433482
• gnomAD v4: X-22247776-TCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247779_22247781del , CM000685.2:g.22247779_22247781del	GRCh38
NC_000023.10:g.22265896_22265898del , CM000685.1:g.22265896_22265898del	GRCh37
NC_000023.9:g.22175817_22175819del	NCBI36
NG_007563.2:g.219976_219978del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*86-72_*86-70del (PHEX)	ENSP00000508059.1:n.*86-72_*86-70del
ENST00000683289.1:c.624+20168_624+20170del (PHEX)	ENSP00000508195.1:n.624+20168_624+20170de...
ENST00000683917.1:n.932-72_932-70del (PHEX)
ENST00000684356.1:c.702-72_702-70del (PHEX)	ENSP00000507619.1:n.702-72_702-70del
ENST00000684745.1:n.1822-72_1822-70del (PHEX)
ENST00000379374.5:c.2148-72_2148-70del (PHEX) MANE Select	ENSP00000368682.4:n.2148-72_2148-70del
ENST00000379374.4:c.2148-72_2148-70del (PHEX)	ENSP00000368682.4:n.2148-72_2148-70del
NM_000444.5:c.2148-72_2148-70del (PHEX)	NP_000435.3:n.2148-72_2148-70del
NM_001282754.1:c.2071-72_2071-70del (PHEX)	NP_001269683.1:n.2071-72_2071-70del
XM_011545533.1:c.1392-72_1392-70del (PHEX)	XP_011543835.1:n.1392-72_1392-70del
XM_011545534.1:c.1392-72_1392-70del (PHEX)	XP_011543836.1:n.1392-72_1392-70del
XM_011545536.1:c.1041-72_1041-70del (PHEX)	XP_011543838.1:n.1041-72_1041-70del
XR_950533.1:n.140+6160_140+6162del
XR_950534.1:n.127+6160_127+6162del
NR_073010.2:n.850+6160_850+6162del (PTCHD1-AS)
XM_011545536.2:c.1041-72_1041-70del (PHEX)	XP_011543838.1:n.1041-72_1041-70del
XM_017029579.1:c.1392-72_1392-70del (PHEX)	XP_016885068.1:n.1392-72_1392-70del
XM_024452390.1:c.1857-72_1857-70del (PHEX)	XP_024308158.1:n.1857-72_1857-70del
XR_001755695.1:n.2988-72_2988-70del (PHEX)
NM_000444.6:c.2148-72_2148-70del (PHEX) MANE Select	NP_000435.3:n.2148-72_2148-70del
NM_001282754.2:c.2071-72_2071-70del (PHEX)	NP_001269683.1:n.2071-72_2071-70del