Canonical Allele Identifier: CA645515681

Gene: P3H2

Linked Data

• COSMIC: COSM290925

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995430_189995431delinsTA , CM000665.2:g.189995430_189995431delinsTA	GRCh38
NC_000003.11:g.189713219_189713220delinsTA , CM000665.1:g.189713219_189713220delinsTA	GRCh37
NC_000003.10:g.191195913_191195914delinsTA	NCBI36
NG_031929.1:g.132007_132008delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.492_493delinsTA MANE Select	ENSP00000316881.5:p.Glu165Lys
ENST00000319332.9:c.492_493delinsTA	ENSP00000316881.5:p.Glu165Lys
ENST00000426003.1:c.-52_-51delinsTA	ENSP00000394326.1:n.-52_-51delinsTA
ENST00000427335.6:c.-52_-51delinsTA	ENSP00000408947.2:n.-52_-51delinsTA
ENST00000444866.5:c.-52_-51delinsTA	ENSP00000391374.1:n.-52_-51delinsTA
NM_001134418.1:c.-52_-51delinsTA	NP_001127890.1:n.-52_-51delinsTA
NM_018192.3:c.492_493delinsTA	NP_060662.2:p.Glu165Lys
XM_011512955.1:c.-52_-51delinsTA	XP_011511257.1:n.-52_-51delinsTA
NM_018192.4:c.492_493delinsTA MANE Select	NP_060662.2:p.Glu165Lys
NM_001134418.2:c.-52_-51delinsTA	NP_001127890.1:n.-52_-51delinsTA