Canonical Allele Identifier: CA2579572482

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247914del , CM000685.2:g.22247914del	GRCh38
NC_000023.10:g.22266031del , CM000685.1:g.22266031del	GRCh37
NC_000023.9:g.22175952del	NCBI36
NG_007563.2:g.220111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*149del (PHEX)	ENSP00000508059.1:n.*149del
ENST00000683289.1:c.624+20303del (PHEX)	ENSP00000508195.1:n.624+20303del
ENST00000683917.1:n.995del (PHEX)
ENST00000684356.1:c.765del (PHEX)	ENSP00000507619.1:p.Thr256ArgfsTer2
ENST00000684745.1:n.1885del (PHEX)
ENST00000379374.5:c.2211del (PHEX) MANE Select	ENSP00000368682.4:p.Thr738ArgfsTer2
ENST00000379374.4:c.2211del (PHEX)	ENSP00000368682.4:p.Thr738ArgfsTer2
NM_000444.5:c.2211del (PHEX)	NP_000435.3:p.Thr738ArgfsTer2
NM_001282754.1:c.*46del (PHEX)	NP_001269683.1:n.*46del
XM_011545533.1:c.1455del (PHEX)	XP_011543835.1:p.Thr486ArgfsTer2
XM_011545534.1:c.1455del (PHEX)	XP_011543836.1:p.Thr486ArgfsTer2
XM_011545536.1:c.1104del (PHEX)	XP_011543838.1:p.Thr369ArgfsTer2
XR_950533.1:n.140+6026del
XR_950534.1:n.127+6026del
NR_073010.2:n.850+6026del (PTCHD1-AS)
XM_011545536.2:c.1104del (PHEX)	XP_011543838.1:p.Thr369ArgfsTer2
XM_017029579.1:c.1455del (PHEX)	XP_016885068.1:p.Thr486ArgfsTer2
XM_024452390.1:c.1920del (PHEX)	XP_024308158.1:p.Thr641ArgfsTer2
XR_001755695.1:n.3051del (PHEX)
NM_000444.6:c.2211del (PHEX) MANE Select	NP_000435.3:p.Thr738ArgfsTer2
NM_001282754.2:c.*46del (PHEX)	NP_001269683.1:n.*46del