Canonical Allele Identifier: CA2592066667

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v3: X-22247623-CTG-C
• gnomAD v4: X-22247623-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247625_22247626del , CM000685.2:g.22247625_22247626del	GRCh38
NC_000023.10:g.22265742_22265743del , CM000685.1:g.22265742_22265743del	GRCh37
NC_000023.9:g.22175663_22175664del	NCBI36
NG_007563.2:g.219822_219823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*86-226_*86-225del (PHEX)	ENSP00000508059.1:n.*86-226_*86-225del
ENST00000683289.1:c.624+20014_624+20015del (PHEX)	ENSP00000508195.1:n.624+20014_624+20015del
ENST00000683917.1:n.932-226_932-225del (PHEX)
ENST00000684356.1:c.702-226_702-225del (PHEX)	ENSP00000507619.1:n.702-226_702-225del
ENST00000684745.1:n.1822-226_1822-225del (PHEX)
ENST00000379374.5:c.2148-226_2148-225del (PHEX) MANE Select	ENSP00000368682.4:n.2148-226_2148-225del
ENST00000379374.4:c.2148-226_2148-225del (PHEX)	ENSP00000368682.4:n.2148-226_2148-225del
NM_000444.5:c.2148-226_2148-225del (PHEX)	NP_000435.3:n.2148-226_2148-225del
NM_001282754.1:c.2071-226_2071-225del (PHEX)	NP_001269683.1:n.2071-226_2071-225del
XM_011545533.1:c.1392-226_1392-225del (PHEX)	XP_011543835.1:n.1392-226_1392-225del
XM_011545534.1:c.1392-226_1392-225del (PHEX)	XP_011543836.1:n.1392-226_1392-225del
XM_011545536.1:c.1041-226_1041-225del (PHEX)	XP_011543838.1:n.1041-226_1041-225del
XR_950533.1:n.140+6314_140+6315del
XR_950534.1:n.127+6314_127+6315del
NR_073010.2:n.850+6314_850+6315del (PTCHD1-AS)
XM_011545536.2:c.1041-226_1041-225del (PHEX)	XP_011543838.1:n.1041-226_1041-225del
XM_017029579.1:c.1392-226_1392-225del (PHEX)	XP_016885068.1:n.1392-226_1392-225del
XM_024452390.1:c.1857-226_1857-225del (PHEX)	XP_024308158.1:n.1857-226_1857-225del
XR_001755695.1:n.2988-226_2988-225del (PHEX)
NM_000444.6:c.2148-226_2148-225del (PHEX) MANE Select	NP_000435.3:n.2148-226_2148-225del
NM_001282754.2:c.2071-226_2071-225del (PHEX)	NP_001269683.1:n.2071-226_2071-225del