Canonical Allele Identifier: CA1428575326

Gene: P3H2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995577_189995578delinsCA , CM000665.2:g.189995577_189995578delinsCA	GRCh38
NC_000003.11:g.189713366_189713367delinsCA , CM000665.1:g.189713366_189713367delinsCA	GRCh37
NC_000003.10:g.191196060_191196061delinsCA	NCBI36
NG_031929.1:g.131860_131861delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-136_481-135delinsTG MANE Select	ENSP00000316881.5:n.481-136_481-135delinsTG
ENST00000319332.9:c.481-136_481-135delinsTG	ENSP00000316881.5:n.481-136_481-135delinsTG
ENST00000426003.1:c.-63-136_-63-135delinsTG	ENSP00000394326.1:n.-63-136_-63-135delinsTG
ENST00000427335.6:c.-63-136_-63-135delinsTG	ENSP00000408947.2:n.-63-136_-63-135delinsTG
ENST00000444866.5:c.-63-136_-63-135delinsTG	ENSP00000391374.1:n.-63-136_-63-135delinsTG
NM_001134418.1:c.-63-136_-63-135delinsTG	NP_001127890.1:n.-63-136_-63-135delinsTG
NM_018192.3:c.481-136_481-135delinsTG	NP_060662.2:n.481-136_481-135delinsTG
XM_011512955.1:c.-63-136_-63-135delinsTG	XP_011511257.1:n.-63-136_-63-135delinsTG
NM_018192.4:c.481-136_481-135delinsTG MANE Select	NP_060662.2:n.481-136_481-135delinsTG
NM_001134418.2:c.-63-136_-63-135delinsTG	NP_001127890.1:n.-63-136_-63-135delinsTG