Canonical Allele Identifier: CA1428575291

Gene: P3H2

Linked Data

• dbSNP Id: rs1724030414
• gnomAD v4: 3-189995561-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995562_189995563insGT , CM000665.2:g.189995562_189995563insGT	GRCh38
NC_000003.11:g.189713351_189713352insGT , CM000665.1:g.189713351_189713352insGT	GRCh37
NC_000003.10:g.191196045_191196046insGT	NCBI36
NG_031929.1:g.131876_131877insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-120_481-119insCA MANE Select	ENSP00000316881.5:n.481-120_481-119insCA
ENST00000319332.9:c.481-120_481-119insCA	ENSP00000316881.5:n.481-120_481-119insCA
ENST00000426003.1:c.-63-120_-63-119insCA	ENSP00000394326.1:n.-63-120_-63-119insCA
ENST00000427335.6:c.-63-120_-63-119insCA	ENSP00000408947.2:n.-63-120_-63-119insCA
ENST00000444866.5:c.-63-120_-63-119insCA	ENSP00000391374.1:n.-63-120_-63-119insCA
NM_001134418.1:c.-63-120_-63-119insCA	NP_001127890.1:n.-63-120_-63-119insCA
NM_018192.3:c.481-120_481-119insCA	NP_060662.2:n.481-120_481-119insCA
XM_011512955.1:c.-63-120_-63-119insCA	XP_011511257.1:n.-63-120_-63-119insCA
NM_018192.4:c.481-120_481-119insCA MANE Select	NP_060662.2:n.481-120_481-119insCA
NM_001134418.2:c.-63-120_-63-119insCA	NP_001127890.1:n.-63-120_-63-119insCA