Canonical Allele Identifier: CA2586968751

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201161del , CM000664.2:g.26201161del	GRCh38
NC_000002.11:g.26424030del , CM000664.1:g.26424030del	GRCh37
NC_000002.10:g.26277534del	NCBI36
NG_007121.1:g.48461del
NG_007121.2:g.48462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1381del (HADHA) MANE Select	ENSP00000370023.3:p.Glu461LysfsTer2
ENST00000492433.2:c.1381del (HADHA)	ENSP00000438039.2:p.Glu461LysfsTer2
ENST00000643057.1:c.*1272del (HADHA)	ENSP00000493761.1:n.*1272del
ENST00000643063.1:c.*427del (HADHA)	ENSP00000495353.1:n.*427del
ENST00000643233.1:c.*1272del (HADHA)	ENSP00000493880.1:n.*1272del
ENST00000644428.1:c.1381del (HADHA)	ENSP00000495560.1:p.Glu461LysfsTer2
ENST00000645274.1:c.1276del (HADHA)	ENSP00000493996.1:p.Glu426LysfsTer2
ENST00000646031.1:c.740del (HADHA)
ENST00000646483.1:c.1247del (HADHA)	ENSP00000496185.1:n.1247del
ENST00000380649.7:c.1381del (HADHA)	ENSP00000370023.3:p.Glu461LysfsTer2
NM_000182.4:c.1381del (HADHA)	NP_000173.2:p.Glu461LysfsTer2
XM_011532567.1:c.1684-1072del (GAREM2)	XP_011530869.1:n.1684-1072del
XM_011532567.3:c.1684-1072del (GAREM2)	XP_011530869.1:n.1684-1072del
NM_000182.5:c.1381del (HADHA) MANE Select	NP_000173.2:p.Glu461LysfsTer2