Canonical Allele Identifier: CA1057647388

Gene: P3H2

Linked Data

• gnomAD v3: 3-189995572-TCAGA-T
• gnomAD v4: 3-189995572-TCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995576_189995579del , CM000665.2:g.189995576_189995579del	GRCh38
NC_000003.11:g.189713365_189713368del , CM000665.1:g.189713365_189713368del	GRCh37
NC_000003.10:g.191196059_191196062del	NCBI36
NG_031929.1:g.131862_131865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-134_481-131del MANE Select	ENSP00000316881.5:n.481-134_481-131del
ENST00000319332.9:c.481-134_481-131del	ENSP00000316881.5:n.481-134_481-131del
ENST00000426003.1:c.-63-134_-63-131del	ENSP00000394326.1:n.-63-134_-63-131del
ENST00000427335.6:c.-63-134_-63-131del	ENSP00000408947.2:n.-63-134_-63-131del
ENST00000444866.5:c.-63-134_-63-131del	ENSP00000391374.1:n.-63-134_-63-131del
NM_001134418.1:c.-63-134_-63-131del	NP_001127890.1:n.-63-134_-63-131del
NM_018192.3:c.481-134_481-131del	NP_060662.2:n.481-134_481-131del
XM_011512955.1:c.-63-134_-63-131del	XP_011511257.1:n.-63-134_-63-131del
NM_018192.4:c.481-134_481-131del MANE Select	NP_060662.2:n.481-134_481-131del
NM_001134418.2:c.-63-134_-63-131del	NP_001127890.1:n.-63-134_-63-131del