Canonical Allele Identifier: CA1057647315

Gene: P3H2

Linked Data

• gnomAD v3: 3-189995556-G-GGTTTTTTTTTT
• gnomAD v4: 3-189995556-G-GGTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995556_189995557insGTTTTTTTTTT , CM000665.2:g.189995556_189995557insGTTTTTTTTTT	GRCh38
NC_000003.11:g.189713345_189713346insGTTTTTTTTTT , CM000665.1:g.189713345_189713346insGTTTTTTTTTT	GRCh37
NC_000003.10:g.191196039_191196040insGTTTTTTTTTT	NCBI36
NG_031929.1:g.131881_131882insAAAAAAAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-115_481-114insAAAAAAAAAAC MANE Select	ENSP00000316881.5:n.481-115_481-114insAAAAAAAAAAC
ENST00000319332.9:c.481-115_481-114insAAAAAAAAAAC	ENSP00000316881.5:n.481-115_481-114insAAAAAAAAAAC
ENST00000426003.1:c.-63-115_-63-114insAAAAAAAAAAC	ENSP00000394326.1:n.-63-115_-63-114insAAAAAAAAAAC
ENST00000427335.6:c.-63-115_-63-114insAAAAAAAAAAC	ENSP00000408947.2:n.-63-115_-63-114insAAAAAAAAAAC
ENST00000444866.5:c.-63-115_-63-114insAAAAAAAAAAC	ENSP00000391374.1:n.-63-115_-63-114insAAAAAAAAAAC
NM_001134418.1:c.-63-115_-63-114insAAAAAAAAAAC	NP_001127890.1:n.-63-115_-63-114insAAAAAAAAAAC
NM_018192.3:c.481-115_481-114insAAAAAAAAAAC	NP_060662.2:n.481-115_481-114insAAAAAAAAAAC
XM_011512955.1:c.-63-115_-63-114insAAAAAAAAAAC	XP_011511257.1:n.-63-115_-63-114insAAAAAAAAAAC
NM_018192.4:c.481-115_481-114insAAAAAAAAAAC MANE Select	NP_060662.2:n.481-115_481-114insAAAAAAAAAAC
NM_001134418.2:c.-63-115_-63-114insAAAAAAAAAAC	NP_001127890.1:n.-63-115_-63-114insAAAAAAAAAAC