Canonical Allele Identifier: CA2740493713

Gene: P3H2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995447_189995448insAAAAAAAAA , CM000665.2:g.189995447_189995448insAAAAAAAAA	GRCh38
NC_000003.11:g.189713236_189713237insAAAAAAAAA , CM000665.1:g.189713236_189713237insAAAAAAAAA	GRCh37
NC_000003.10:g.191195930_191195931insAAAAAAAAA	NCBI36
NG_031929.1:g.131993_131994insTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-3_481-2insTTTTTTTTT MANE Select	ENSP00000316881.5:n.481-3_481-2insTTTTTTTTT
ENST00000319332.9:c.481-3_481-2insTTTTTTTTT	ENSP00000316881.5:n.481-3_481-2insTTTTTTTTT
ENST00000426003.1:c.-63-3_-63-2insTTTTTTTTT	ENSP00000394326.1:n.-63-3_-63-2insTTTTTTTTT
ENST00000427335.6:c.-63-3_-63-2insTTTTTTTTT	ENSP00000408947.2:n.-63-3_-63-2insTTTTTTTTT
ENST00000444866.5:c.-63-3_-63-2insTTTTTTTTT	ENSP00000391374.1:n.-63-3_-63-2insTTTTTTTTT
NM_001134418.1:c.-63-3_-63-2insTTTTTTTTT	NP_001127890.1:n.-63-3_-63-2insTTTTTTTTT
NM_018192.3:c.481-3_481-2insTTTTTTTTT	NP_060662.2:n.481-3_481-2insTTTTTTTTT
XM_011512955.1:c.-63-3_-63-2insTTTTTTTTT	XP_011511257.1:n.-63-3_-63-2insTTTTTTTTT
NM_018192.4:c.481-3_481-2insTTTTTTTTT MANE Select	NP_060662.2:n.481-3_481-2insTTTTTTTTT
NM_001134418.2:c.-63-3_-63-2insTTTTTTTTT	NP_001127890.1:n.-63-3_-63-2insTTTTTTTTT