Canonical Allele Identifier: CA2759867347

Gene: P3H2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995691_189995692del , CM000665.2:g.189995691_189995692del	GRCh38
NC_000003.11:g.189713480_189713481del , CM000665.1:g.189713480_189713481del	GRCh37
NC_000003.10:g.191196174_191196175del	NCBI36
NG_031929.1:g.131747_131748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-249_481-248del MANE Select	ENSP00000316881.5:n.481-249_481-248del
ENST00000319332.9:c.481-249_481-248del	ENSP00000316881.5:n.481-249_481-248del
ENST00000426003.1:c.-63-249_-63-248del	ENSP00000394326.1:n.-63-249_-63-248del
ENST00000427335.6:c.-63-249_-63-248del	ENSP00000408947.2:n.-63-249_-63-248del
ENST00000444866.5:c.-63-249_-63-248del	ENSP00000391374.1:n.-63-249_-63-248del
NM_001134418.1:c.-63-249_-63-248del	NP_001127890.1:n.-63-249_-63-248del
NM_018192.3:c.481-249_481-248del	NP_060662.2:n.481-249_481-248del
XM_011512955.1:c.-63-249_-63-248del	XP_011511257.1:n.-63-249_-63-248del
NM_018192.4:c.481-249_481-248del MANE Select	NP_060662.2:n.481-249_481-248del
NM_001134418.2:c.-63-249_-63-248del	NP_001127890.1:n.-63-249_-63-248del