Canonical Allele Identifier: CA1057647520

Gene: P3H2

Linked Data

• gnomAD v3: 3-189995584-TAAAA-T
• gnomAD v4: 3-189995584-TAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995586_189995589del , CM000665.2:g.189995586_189995589del	GRCh38
NC_000003.11:g.189713375_189713378del , CM000665.1:g.189713375_189713378del	GRCh37
NC_000003.10:g.191196069_191196072del	NCBI36
NG_031929.1:g.131850_131853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-146_481-143del MANE Select	ENSP00000316881.5:n.481-146_481-143del
ENST00000319332.9:c.481-146_481-143del	ENSP00000316881.5:n.481-146_481-143del
ENST00000426003.1:c.-63-146_-63-143del	ENSP00000394326.1:n.-63-146_-63-143del
ENST00000427335.6:c.-63-146_-63-143del	ENSP00000408947.2:n.-63-146_-63-143del
ENST00000444866.5:c.-63-146_-63-143del	ENSP00000391374.1:n.-63-146_-63-143del
NM_001134418.1:c.-63-146_-63-143del	NP_001127890.1:n.-63-146_-63-143del
NM_018192.3:c.481-146_481-143del	NP_060662.2:n.481-146_481-143del
XM_011512955.1:c.-63-146_-63-143del	XP_011511257.1:n.-63-146_-63-143del
NM_018192.4:c.481-146_481-143del MANE Select	NP_060662.2:n.481-146_481-143del
NM_001134418.2:c.-63-146_-63-143del	NP_001127890.1:n.-63-146_-63-143del