Canonical Allele Identifier: CA2579572480

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247854del , CM000685.2:g.22247854del	GRCh38
NC_000023.10:g.22265971del , CM000685.1:g.22265971del	GRCh37
NC_000023.9:g.22175892del	NCBI36
NG_007563.2:g.220051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*89del (PHEX)	ENSP00000508059.1:n.*89del
ENST00000683289.1:c.624+20243del (PHEX)	ENSP00000508195.1:n.624+20243del
ENST00000683917.1:n.935del (PHEX)
ENST00000684356.1:c.705del (PHEX)	ENSP00000507619.1:p.Asn236MetfsTer22
ENST00000684745.1:n.1825del (PHEX)
ENST00000379374.5:c.2151del (PHEX) MANE Select	ENSP00000368682.4:p.Asn718MetfsTer22
ENST00000379374.4:c.2151del (PHEX)	ENSP00000368682.4:p.Asn718MetfsTer22
NM_000444.5:c.2151del (PHEX)	NP_000435.3:p.Asn718MetfsTer22
NM_001282754.1:c.2074del (PHEX)	NP_001269683.1:p.Gln692AsnfsTer?
XM_011545533.1:c.1395del (PHEX)	XP_011543835.1:p.Asn466MetfsTer22
XM_011545534.1:c.1395del (PHEX)	XP_011543836.1:p.Asn466MetfsTer22
XM_011545536.1:c.1044del (PHEX)	XP_011543838.1:p.Asn349MetfsTer22
XR_950533.1:n.140+6085del
XR_950534.1:n.127+6085del
NR_073010.2:n.850+6085del (PTCHD1-AS)
XM_011545536.2:c.1044del (PHEX)	XP_011543838.1:p.Asn349MetfsTer22
XM_017029579.1:c.1395del (PHEX)	XP_016885068.1:p.Asn466MetfsTer22
XM_024452390.1:c.1860del (PHEX)	XP_024308158.1:p.Asn621MetfsTer22
XR_001755695.1:n.2991del (PHEX)
NM_000444.6:c.2151del (PHEX) MANE Select	NP_000435.3:p.Asn718MetfsTer22
NM_001282754.2:c.2074del (PHEX)	NP_001269683.1:p.Gln692AsnfsTer?