Canonical Allele Identifier: CA1239701196

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192218_26192220delinsTTA , CM000664.2:g.26192218_26192220delinsTTA	GRCh38
NC_000002.11:g.26415087_26415089delinsTTA , CM000664.1:g.26415087_26415089delinsTTA	GRCh37
NC_000002.10:g.26268591_26268593delinsTTA	NCBI36
NG_007121.1:g.57401_57403delinsTAA
NG_007121.2:g.57402_57404delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2000+90_2000+92delinsTAA (HADHA) MANE Select	ENSP00000370023.3:n.2000+90_2000+92delinsTAA
ENST00000492433.2:c.2000+90_2000+92delinsTAA (HADHA)	ENSP00000438039.2:n.2000+90_2000+92delinsTAA
ENST00000643057.1:c.*1891+90_*1891+92delinsTAA (HADHA)	ENSP00000493761.1:n.*1891+90_*1891+92delinsTAA
ENST00000643063.1:c.*1046+90_*1046+92delinsTAA (HADHA)	ENSP00000495353.1:n.*1046+90_*1046+92delinsTAA
ENST00000643233.1:c.*1891+90_*1891+92delinsTAA (HADHA)	ENSP00000493880.1:n.*1891+90_*1891+92delinsTAA
ENST00000644428.1:c.*624+90_*624+92delinsTAA (HADHA)	ENSP00000495560.1:n.*624+90_*624+92delinsTAA
ENST00000645274.1:c.1895+90_1895+92delinsTAA (HADHA)	ENSP00000493996.1:n.1895+90_1895+92delinsTAA
ENST00000646031.1:c.1359+90_1359+92delinsTAA (HADHA)
ENST00000646483.1:c.1866+90_1866+92delinsTAA (HADHA)	ENSP00000496185.1:n.1866+90_1866+92delinsTAA
ENST00000380649.7:c.2000+90_2000+92delinsTAA (HADHA)	ENSP00000370023.3:n.2000+90_2000+92delinsTAA
ENST00000492433.1:c.458+90_458+92delinsTAA (HADHA)	ENSP00000438039.1:n.458+90_458+92delinsTAA
NM_000182.4:c.2000+90_2000+92delinsTAA (HADHA)	NP_000173.2:n.2000+90_2000+92delinsTAA
XM_011532567.1:c.1683+4903_1683+4905delinsTTA (GAREM2)	XP_011530869.1:n.1683+4903_1683+4905delinsTTA
XM_011532567.3:c.1683+4903_1683+4905delinsTTA (GAREM2)	XP_011530869.1:n.1683+4903_1683+4905delinsTTA
NM_000182.5:c.2000+90_2000+92delinsTAA (HADHA) MANE Select	NP_000173.2:n.2000+90_2000+92delinsTAA