Canonical Allele Identifier: CA2693308475

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22247948-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247950del , CM000685.2:g.22247950del	GRCh38
NC_000023.10:g.22266067del , CM000685.1:g.22266067del	GRCh37
NC_000023.9:g.22175988del	NCBI36
NG_007563.2:g.220147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*185del (PHEX)	ENSP00000508059.1:n.*185del
ENST00000683289.1:c.624+20339del (PHEX)	ENSP00000508195.1:n.624+20339del
ENST00000683917.1:n.1031del (PHEX)
ENST00000684356.1:c.801del (PHEX)	ENSP00000507619.1:p.Trp267CysfsTer22
ENST00000684745.1:n.1921del (PHEX)
ENST00000379374.5:c.2247del (PHEX) MANE Select	ENSP00000368682.4:p.Trp749CysfsTer22
ENST00000379374.4:c.2247del (PHEX)	ENSP00000368682.4:p.Trp749CysfsTer22
NM_000444.5:c.2247del (PHEX)	NP_000435.3:p.Trp749CysfsTer22
NM_001282754.1:c.*82del (PHEX)	NP_001269683.1:n.*82del
XM_011545533.1:c.1491del (PHEX)	XP_011543835.1:p.Trp497CysfsTer22
XM_011545534.1:c.1491del (PHEX)	XP_011543836.1:p.Trp497CysfsTer22
XM_011545536.1:c.1140del (PHEX)	XP_011543838.1:p.Trp380CysfsTer22
XR_950533.1:n.140+5990del
XR_950534.1:n.127+5990del
NR_073010.2:n.850+5990del (PTCHD1-AS)
XM_011545536.2:c.1140del (PHEX)	XP_011543838.1:p.Trp380CysfsTer22
XM_017029579.1:c.1491del (PHEX)	XP_016885068.1:p.Trp497CysfsTer22
XM_024452390.1:c.1956del (PHEX)	XP_024308158.1:p.Trp652CysfsTer22
XR_001755695.1:n.3087del (PHEX)
NM_000444.6:c.2247del (PHEX) MANE Select	NP_000435.3:p.Trp749CysfsTer22
NM_001282754.2:c.*82del (PHEX)	NP_001269683.1:n.*82del