Canonical Allele Identifier: CA2693307753

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22226447-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226451del , CM000685.2:g.22226451del	GRCh38
NC_000023.10:g.22244568del , CM000685.1:g.22244568del	GRCh37
NC_000023.9:g.22154489del	NCBI36
NG_007563.2:g.198648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.462del (PHEX)	ENSP00000508003.1:p.Lys155ArgfsTer?
ENST00000683162.1:c.462del (PHEX)	ENSP00000508059.1:p.Lys155ArgfsTer25
ENST00000683289.1:c.462del (PHEX)	ENSP00000508195.1:p.Lys155ArgfsTer25
ENST00000683917.1:n.692del (PHEX)
ENST00000684356.1:c.462del (PHEX)	ENSP00000507619.1:p.Lys155ArgfsTer25
ENST00000684745.1:n.1582del (PHEX)
ENST00000379374.5:c.1908del (PHEX) MANE Select	ENSP00000368682.4:p.Lys637ArgfsTer25
ENST00000379374.4:c.1908del (PHEX)	ENSP00000368682.4:p.Lys637ArgfsTer25
NM_000444.5:c.1908del (PHEX)	NP_000435.3:p.Lys637ArgfsTer25
NM_001282754.1:c.1908del (PHEX)	NP_001269683.1:p.Lys637ArgfsTer25
XM_011545533.1:c.1152del (PHEX)	XP_011543835.1:p.Lys385ArgfsTer25
XM_011545534.1:c.1152del (PHEX)	XP_011543836.1:p.Lys385ArgfsTer25
XM_011545536.1:c.801del (PHEX)	XP_011543838.1:p.Lys268ArgfsTer25
XR_950534.1:n.326-425del
NR_073010.2:n.1048+1022del (PTCHD1-AS)
XM_011545536.2:c.801del (PHEX)	XP_011543838.1:p.Lys268ArgfsTer25
XM_017029579.1:c.1152del (PHEX)	XP_016885068.1:p.Lys385ArgfsTer25
XM_024452390.1:c.1617del (PHEX)	XP_024308158.1:p.Lys540ArgfsTer25
XR_001755695.1:n.2748del (PHEX)
NM_000444.6:c.1908del (PHEX) MANE Select	NP_000435.3:p.Lys637ArgfsTer25
NM_001282754.2:c.1908del (PHEX)	NP_001269683.1:p.Lys637ArgfsTer25