Canonical Allele Identifier: CA2669049899

Gene: P3H2

Linked Data

• gnomAD v4: 3-189995564-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995565_189995566insCT , CM000665.2:g.189995565_189995566insCT	GRCh38
NC_000003.11:g.189713354_189713355insCT , CM000665.1:g.189713354_189713355insCT	GRCh37
NC_000003.10:g.191196048_191196049insCT	NCBI36
NG_031929.1:g.131873_131874insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-123_481-122insGA MANE Select	ENSP00000316881.5:n.481-123_481-122insGA
ENST00000319332.9:c.481-123_481-122insGA	ENSP00000316881.5:n.481-123_481-122insGA
ENST00000426003.1:c.-63-123_-63-122insGA	ENSP00000394326.1:n.-63-123_-63-122insGA
ENST00000427335.6:c.-63-123_-63-122insGA	ENSP00000408947.2:n.-63-123_-63-122insGA
ENST00000444866.5:c.-63-123_-63-122insGA	ENSP00000391374.1:n.-63-123_-63-122insGA
NM_001134418.1:c.-63-123_-63-122insGA	NP_001127890.1:n.-63-123_-63-122insGA
NM_018192.3:c.481-123_481-122insGA	NP_060662.2:n.481-123_481-122insGA
XM_011512955.1:c.-63-123_-63-122insGA	XP_011511257.1:n.-63-123_-63-122insGA
NM_018192.4:c.481-123_481-122insGA MANE Select	NP_060662.2:n.481-123_481-122insGA
NM_001134418.2:c.-63-123_-63-122insGA	NP_001127890.1:n.-63-123_-63-122insGA