Canonical Allele Identifier: CA1428574934

Gene: P3H2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995421_189995431delinsCTGCTTTTTCG , CM000665.2:g.189995421_189995431delinsCTGCTTTTTCG	GRCh38
NC_000003.11:g.189713210_189713220delinsCTGCTTTTTCG , CM000665.1:g.189713210_189713220delinsCTGCTTTTTCG	GRCh37
NC_000003.10:g.191195904_191195914delinsCTGCTTTTTCG	NCBI36
NG_031929.1:g.132007_132017delinsCGAAAAAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.492_502delinsCGAAAAAGCAG MANE Select	ENSP00000316881.5:p.Leu164=
ENST00000319332.9:c.492_502delinsCGAAAAAGCAG	ENSP00000316881.5:p.Leu164=
ENST00000426003.1:c.-52_-42delinsCGAAAAAGCAG	ENSP00000394326.1:n.-52_-42delinsCGAAAAAGCAG
ENST00000427335.6:c.-52_-42delinsCGAAAAAGCAG	ENSP00000408947.2:n.-52_-42delinsCGAAAAAGCAG
ENST00000444866.5:c.-52_-42delinsCGAAAAAGCAG	ENSP00000391374.1:n.-52_-42delinsCGAAAAAGCAG
NM_001134418.1:c.-52_-42delinsCGAAAAAGCAG	NP_001127890.1:n.-52_-42delinsCGAAAAAGCAG
NM_018192.3:c.492_502delinsCGAAAAAGCAG	NP_060662.2:p.Leu164=
XM_011512955.1:c.-52_-42delinsCGAAAAAGCAG	XP_011511257.1:n.-52_-42delinsCGAAAAAGCAG
NM_018192.4:c.492_502delinsCGAAAAAGCAG MANE Select	NP_060662.2:p.Leu164=
NM_001134418.2:c.-52_-42delinsCGAAAAAGCAG	NP_001127890.1:n.-52_-42delinsCGAAAAAGCAG