Canonical Allele Identifier: CA1239701210

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192238_26192240delinsAAG , CM000664.2:g.26192238_26192240delinsAAG	GRCh38
NC_000002.11:g.26415107_26415109delinsAAG , CM000664.1:g.26415107_26415109delinsAAG	GRCh37
NC_000002.10:g.26268611_26268613delinsAAG	NCBI36
NG_007121.1:g.57381_57383delinsCTT
NG_007121.2:g.57382_57384delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2000+70_2000+72delinsCTT (HADHA) MANE Select	ENSP00000370023.3:n.2000+70_2000+72delinsCTT
ENST00000492433.2:c.2000+70_2000+72delinsCTT (HADHA)	ENSP00000438039.2:n.2000+70_2000+72delinsCTT
ENST00000643057.1:c.*1891+70_*1891+72delinsCTT (HADHA)	ENSP00000493761.1:n.*1891+70_*1891+72delinsCTT
ENST00000643063.1:c.*1046+70_*1046+72delinsCTT (HADHA)	ENSP00000495353.1:n.*1046+70_*1046+72delinsCTT
ENST00000643233.1:c.*1891+70_*1891+72delinsCTT (HADHA)	ENSP00000493880.1:n.*1891+70_*1891+72delinsCTT
ENST00000644428.1:c.*624+70_*624+72delinsCTT (HADHA)	ENSP00000495560.1:n.*624+70_*624+72delinsCTT
ENST00000645274.1:c.1895+70_1895+72delinsCTT (HADHA)	ENSP00000493996.1:n.1895+70_1895+72delinsCTT
ENST00000646031.1:c.1359+70_1359+72delinsCTT (HADHA)
ENST00000646483.1:c.1866+70_1866+72delinsCTT (HADHA)	ENSP00000496185.1:n.1866+70_1866+72delinsCTT
ENST00000380649.7:c.2000+70_2000+72delinsCTT (HADHA)	ENSP00000370023.3:n.2000+70_2000+72delinsCTT
ENST00000492433.1:c.458+70_458+72delinsCTT (HADHA)	ENSP00000438039.1:n.458+70_458+72delinsCTT
NM_000182.4:c.2000+70_2000+72delinsCTT (HADHA)	NP_000173.2:n.2000+70_2000+72delinsCTT
XM_011532567.1:c.1683+4923_1683+4925delinsAAG (GAREM2)	XP_011530869.1:n.1683+4923_1683+4925delinsAAG
XM_011532567.3:c.1683+4923_1683+4925delinsAAG (GAREM2)	XP_011530869.1:n.1683+4923_1683+4925delinsAAG
NM_000182.5:c.2000+70_2000+72delinsCTT (HADHA) MANE Select	NP_000173.2:n.2000+70_2000+72delinsCTT