Canonical Allele Identifier: CA2695231801

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226470_22226473dup , CM000685.2:g.22226470_22226473dup	GRCh38
NC_000023.10:g.22244587_22244590dup , CM000685.1:g.22244587_22244590dup	GRCh37
NC_000023.9:g.22154508_22154511dup	NCBI36
NG_007563.2:g.198667_198670dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.481_484dup (PHEX)	ENSP00000508003.1:p.Ile162LysfsTer4
ENST00000683162.1:c.481_484dup (PHEX)	ENSP00000508059.1:p.Ile162LysfsTer4
ENST00000683289.1:c.481_484dup (PHEX)	ENSP00000508195.1:p.Ile162LysfsTer4
ENST00000683917.1:n.711_714dup (PHEX)
ENST00000684356.1:c.481_484dup (PHEX)	ENSP00000507619.1:p.Ile162LysfsTer4
ENST00000684745.1:n.1601_1604dup (PHEX)
ENST00000379374.5:c.1927_1930dup (PHEX) MANE Select	ENSP00000368682.4:p.Ile644LysfsTer4
ENST00000379374.4:c.1927_1930dup (PHEX)	ENSP00000368682.4:p.Ile644LysfsTer4
NM_000444.5:c.1927_1930dup (PHEX)	NP_000435.3:p.Ile644LysfsTer4
NM_001282754.1:c.1927_1930dup (PHEX)	NP_001269683.1:p.Ile644LysfsTer4
XM_011545533.1:c.1171_1174dup (PHEX)	XP_011543835.1:p.Ile392LysfsTer4
XM_011545534.1:c.1171_1174dup (PHEX)	XP_011543836.1:p.Ile392LysfsTer4
XM_011545536.1:c.820_823dup (PHEX)	XP_011543838.1:p.Ile275LysfsTer4
XR_950534.1:n.326-449_326-446dup
NR_073010.2:n.1048+998_1048+1001dup (PTCHD1-AS)
XM_011545536.2:c.820_823dup (PHEX)	XP_011543838.1:p.Ile275LysfsTer4
XM_017029579.1:c.1171_1174dup (PHEX)	XP_016885068.1:p.Ile392LysfsTer4
XM_024452390.1:c.1636_1639dup (PHEX)	XP_024308158.1:p.Ile547LysfsTer4
XR_001755695.1:n.2767_2770dup (PHEX)
NM_000444.6:c.1927_1930dup (PHEX) MANE Select	NP_000435.3:p.Ile644LysfsTer4
NM_001282754.2:c.1927_1930dup (PHEX)	NP_001269683.1:p.Ile644LysfsTer4