Canonical Allele Identifier: CA1428575183
Gene: P3H2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995556_189995560delinsGTTTT , CM000665.2:g.189995556_189995560delinsGTTTT GRCh38
NC_000003.11:g.189713345_189713349delinsGTTTT , CM000665.1:g.189713345_189713349delinsGTTTT GRCh37
NC_000003.10:g.191196039_191196043delinsGTTTT NCBI36
NG_031929.1:g.131878_131882delinsAAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.481-118_481-114delinsAAAAC MANE Select ENSP00000316881.5:n.481-118_481-114delinsAAAAC
ENST00000319332.9:c.481-118_481-114delinsAAAAC ENSP00000316881.5:n.481-118_481-114delinsAAAAC
ENST00000426003.1:c.-63-118_-63-114delinsAAAAC ENSP00000394326.1:n.-63-118_-63-114delinsAAAAC
ENST00000427335.6:c.-63-118_-63-114delinsAAAAC ENSP00000408947.2:n.-63-118_-63-114delinsAAAAC
ENST00000444866.5:c.-63-118_-63-114delinsAAAAC ENSP00000391374.1:n.-63-118_-63-114delinsAAAAC
NM_001134418.1:c.-63-118_-63-114delinsAAAAC NP_001127890.1:n.-63-118_-63-114delinsAAAAC
NM_018192.3:c.481-118_481-114delinsAAAAC NP_060662.2:n.481-118_481-114delinsAAAAC
XM_011512955.1:c.-63-118_-63-114delinsAAAAC XP_011511257.1:n.-63-118_-63-114delinsAAAAC
NM_018192.4:c.481-118_481-114delinsAAAAC MANE Select NP_060662.2:n.481-118_481-114delinsAAAAC
NM_001134418.2:c.-63-118_-63-114delinsAAAAC NP_001127890.1:n.-63-118_-63-114delinsAAAAC