Canonical Allele Identifier: CA2693307821

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22227368-G-GGACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227370_22227374dup , CM000685.2:g.22227370_22227374dup	GRCh38
NC_000023.10:g.22245487_22245491dup , CM000685.1:g.22245487_22245491dup	GRCh37
NC_000023.9:g.22155408_22155412dup	NCBI36
NG_007563.2:g.199567_199571dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.520-137_520-133dup (PHEX)	ENSP00000508059.1:n.520-137_520-133dup
ENST00000683289.1:c.520-137_520-133dup (PHEX)	ENSP00000508195.1:n.520-137_520-133dup
ENST00000683917.1:n.750-137_750-133dup (PHEX)
ENST00000684356.1:c.520-137_520-133dup (PHEX)	ENSP00000507619.1:n.520-137_520-133dup
ENST00000684745.1:n.1640-137_1640-133dup (PHEX)
ENST00000379374.5:c.1966-137_1966-133dup (PHEX) MANE Select	ENSP00000368682.4:n.1966-137_1966-133dup
ENST00000379374.4:c.1966-137_1966-133dup (PHEX)	ENSP00000368682.4:n.1966-137_1966-133dup
NM_000444.5:c.1966-137_1966-133dup (PHEX)	NP_000435.3:n.1966-137_1966-133dup
NM_001282754.1:c.1966-137_1966-133dup (PHEX)	NP_001269683.1:n.1966-137_1966-133dup
XM_011545533.1:c.1210-137_1210-133dup (PHEX)	XP_011543835.1:n.1210-137_1210-133dup
XM_011545534.1:c.1210-137_1210-133dup (PHEX)	XP_011543836.1:n.1210-137_1210-133dup
XM_011545536.1:c.859-137_859-133dup (PHEX)	XP_011543838.1:n.859-137_859-133dup
XR_950534.1:n.325+97_325+101dup
NR_073010.2:n.1048+97_1048+101dup (PTCHD1-AS)
XM_011545536.2:c.859-137_859-133dup (PHEX)	XP_011543838.1:n.859-137_859-133dup
XM_017029579.1:c.1210-137_1210-133dup (PHEX)	XP_016885068.1:n.1210-137_1210-133dup
XM_024452390.1:c.1675-137_1675-133dup (PHEX)	XP_024308158.1:n.1675-137_1675-133dup
XR_001755695.1:n.2806-137_2806-133dup (PHEX)
NM_000444.6:c.1966-137_1966-133dup (PHEX) MANE Select	NP_000435.3:n.1966-137_1966-133dup
NM_001282754.2:c.1966-137_1966-133dup (PHEX)	NP_001269683.1:n.1966-137_1966-133dup