Canonical Allele Identifier: CA1239705135

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201096_26201098delinsCTG , CM000664.2:g.26201096_26201098delinsCTG	GRCh38
NC_000002.11:g.26423965_26423967delinsCTG , CM000664.1:g.26423965_26423967delinsCTG	GRCh37
NC_000002.10:g.26277469_26277471delinsCTG	NCBI36
NG_007121.1:g.48523_48525delinsCAG
NG_007121.2:g.48524_48526delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1392+51_1392+53delinsCAG (HADHA) MANE Select	ENSP00000370023.3:n.1392+51_1392+53delinsCAG
ENST00000492433.2:c.1392+51_1392+53delinsCAG (HADHA)	ENSP00000438039.2:n.1392+51_1392+53delinsCAG
ENST00000643057.1:c.*1283+51_*1283+53delinsCAG (HADHA)	ENSP00000493761.1:n.*1283+51_*1283+53delinsCAG
ENST00000643063.1:c.*438+51_*438+53delinsCAG (HADHA)	ENSP00000495353.1:n.*438+51_*438+53delinsCAG
ENST00000643233.1:c.*1283+51_*1283+53delinsCAG (HADHA)	ENSP00000493880.1:n.*1283+51_*1283+53delinsCAG
ENST00000644428.1:c.1392+51_1392+53delinsCAG (HADHA)	ENSP00000495560.1:n.1392+51_1392+53delinsCAG
ENST00000645274.1:c.1287+51_1287+53delinsCAG (HADHA)	ENSP00000493996.1:n.1287+51_1287+53delinsCAG
ENST00000646031.1:c.751+51_751+53delinsCAG (HADHA)
ENST00000646483.1:c.1258+51_1258+53delinsCAG (HADHA)	ENSP00000496185.1:n.1258+51_1258+53delinsCAG
ENST00000380649.7:c.1392+51_1392+53delinsCAG (HADHA)	ENSP00000370023.3:n.1392+51_1392+53delinsCAG
NM_000182.4:c.1392+51_1392+53delinsCAG (HADHA)	NP_000173.2:n.1392+51_1392+53delinsCAG
XM_011532567.1:c.1684-1137_1684-1135delinsCTG (GAREM2)	XP_011530869.1:n.1684-1137_1684-1135delinsCTG
XM_011532567.3:c.1684-1137_1684-1135delinsCTG (GAREM2)	XP_011530869.1:n.1684-1137_1684-1135delinsCTG
NM_000182.5:c.1392+51_1392+53delinsCAG (HADHA) MANE Select	NP_000173.2:n.1392+51_1392+53delinsCAG