Canonical Allele Identifier: CA2669049875

Gene: P3H2

Linked Data

• gnomAD v4: 3-189995555-G-GGGTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995556_189995557insGTTTG , CM000665.2:g.189995556_189995557insGTTTG	GRCh38
NC_000003.11:g.189713345_189713346insGTTTG , CM000665.1:g.189713345_189713346insGTTTG	GRCh37
NC_000003.10:g.191196039_191196040insGTTTG	NCBI36
NG_031929.1:g.131882_131883insAAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-114_481-113insAAACC MANE Select	ENSP00000316881.5:n.481-114_481-113insAAACC
ENST00000319332.9:c.481-114_481-113insAAACC	ENSP00000316881.5:n.481-114_481-113insAAACC
ENST00000426003.1:c.-63-114_-63-113insAAACC	ENSP00000394326.1:n.-63-114_-63-113insAAACC
ENST00000427335.6:c.-63-114_-63-113insAAACC	ENSP00000408947.2:n.-63-114_-63-113insAAACC
ENST00000444866.5:c.-63-114_-63-113insAAACC	ENSP00000391374.1:n.-63-114_-63-113insAAACC
NM_001134418.1:c.-63-114_-63-113insAAACC	NP_001127890.1:n.-63-114_-63-113insAAACC
NM_018192.3:c.481-114_481-113insAAACC	NP_060662.2:n.481-114_481-113insAAACC
XM_011512955.1:c.-63-114_-63-113insAAACC	XP_011511257.1:n.-63-114_-63-113insAAACC
NM_018192.4:c.481-114_481-113insAAACC MANE Select	NP_060662.2:n.481-114_481-113insAAACC
NM_001134418.2:c.-63-114_-63-113insAAACC	NP_001127890.1:n.-63-114_-63-113insAAACC