Canonical Allele Identifier: CA2586968830

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195152_26195153del , CM000664.2:g.26195152_26195153del	GRCh38
NC_000002.11:g.26418021_26418022del , CM000664.1:g.26418021_26418022del	GRCh37
NC_000002.10:g.26271525_26271526del	NCBI36
NG_007121.1:g.54470_54471del
NG_007121.2:g.54471_54472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1561_1562del (HADHA) MANE Select	ENSP00000370023.3:p.Thr521GlnfsTer19
ENST00000492433.2:c.1561_1562del (HADHA)	ENSP00000438039.2:p.Thr521GlnfsTer19
ENST00000643057.1:c.*1452_*1453del (HADHA)	ENSP00000493761.1:n.*1452_*1453del
ENST00000643063.1:c.*607_*608del (HADHA)	ENSP00000495353.1:n.*607_*608del
ENST00000643233.1:c.*1452_*1453del (HADHA)	ENSP00000493880.1:n.*1452_*1453del
ENST00000644428.1:c.*185_*186del (HADHA)	ENSP00000495560.1:n.*185_*186del
ENST00000645274.1:c.1456_1457del (HADHA)	ENSP00000493996.1:p.Thr486GlnfsTer19
ENST00000646031.1:c.920_921del (HADHA)
ENST00000646483.1:c.1427_1428del (HADHA)	ENSP00000496185.1:n.1427_1428del
ENST00000380649.7:c.1561_1562del (HADHA)	ENSP00000370023.3:p.Thr521GlnfsTer19
ENST00000492433.1:c.19_20del (HADHA)	ENSP00000438039.1:p.Thr7GlnfsTer19
NM_000182.4:c.1561_1562del (HADHA)	NP_000173.2:p.Thr521GlnfsTer19
XM_011532567.1:c.1684-7081_1684-7080del (GAREM2)	XP_011530869.1:n.1684-7081_1684-7080del
XM_011532567.3:c.1684-7081_1684-7080del (GAREM2)	XP_011530869.1:n.1684-7081_1684-7080del
NM_000182.5:c.1561_1562del (HADHA) MANE Select	NP_000173.2:p.Thr521GlnfsTer19