Canonical Allele Identifier: CA1057647743

Gene: P3H2

Linked Data

• gnomAD v3: 3-189995692-ACT-A
• gnomAD v4: 3-189995692-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995693_189995694del , CM000665.2:g.189995693_189995694del	GRCh38
NC_000003.11:g.189713482_189713483del , CM000665.1:g.189713482_189713483del	GRCh37
NC_000003.10:g.191196176_191196177del	NCBI36
NG_031929.1:g.131744_131745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-252_481-251del MANE Select	ENSP00000316881.5:n.481-252_481-251del
ENST00000319332.9:c.481-252_481-251del	ENSP00000316881.5:n.481-252_481-251del
ENST00000426003.1:c.-63-252_-63-251del	ENSP00000394326.1:n.-63-252_-63-251del
ENST00000427335.6:c.-63-252_-63-251del	ENSP00000408947.2:n.-63-252_-63-251del
ENST00000444866.5:c.-63-252_-63-251del	ENSP00000391374.1:n.-63-252_-63-251del
NM_001134418.1:c.-63-252_-63-251del	NP_001127890.1:n.-63-252_-63-251del
NM_018192.3:c.481-252_481-251del	NP_060662.2:n.481-252_481-251del
XM_011512955.1:c.-63-252_-63-251del	XP_011511257.1:n.-63-252_-63-251del
NM_018192.4:c.481-252_481-251del MANE Select	NP_060662.2:n.481-252_481-251del
NM_001134418.2:c.-63-252_-63-251del	NP_001127890.1:n.-63-252_-63-251del