Canonical Allele Identifier: CA1239701237

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192310_26192329delinsACTTCAGACTTAGGAGGCAG , CM000664.2:g.26192310_26192329delinsACTTCAGACTTAGGAGGCAG	GRCh38
NC_000002.11:g.26415179_26415198delinsACTTCAGACTTAGGAGGCAG , CM000664.1:g.26415179_26415198delinsACTTCAGACTTAGGAGGCAG	GRCh37
NC_000002.10:g.26268683_26268702delinsACTTCAGACTTAGGAGGCAG	NCBI36
NG_007121.1:g.57292_57311delinsCTGCCTCCTAAGTCTGAAGT
NG_007121.2:g.57293_57312delinsCTGCCTCCTAAGTCTGAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1981_2000delinsCTGCCTCCTAAGTCTGAAGT (HADHA) MANE Select	ENSP00000370023.3:p.Leu661=
ENST00000492433.2:c.1981_2000delinsCTGCCTCCTAAGTCTGAAGT (HADHA)	ENSP00000438039.2:p.Leu661=
ENST00000643057.1:c.*1872_*1891delinsCTGCCTCCTAAGTCTGAAGT (HADHA)	ENSP00000493761.1:n.*1872_*1891delinsCTGCCTCCTAAGTCTGAAGT
ENST00000643063.1:c.*1027_*1046delinsCTGCCTCCTAAGTCTGAAGT (HADHA)	ENSP00000495353.1:n.*1027_*1046delinsCTGCCTCCTAAGTCTGAAGT
ENST00000643233.1:c.*1872_*1891delinsCTGCCTCCTAAGTCTGAAGT (HADHA)	ENSP00000493880.1:n.*1872_*1891delinsCTGCCTCCTAAGTCTGAAGT
ENST00000644428.1:c.*605_*624delinsCTGCCTCCTAAGTCTGAAGT (HADHA)	ENSP00000495560.1:n.*605_*624delinsCTGCCTCCTAAGTCTGAAGT
ENST00000645274.1:c.1876_1895delinsCTGCCTCCTAAGTCTGAAGT (HADHA)	ENSP00000493996.1:p.Leu626=
ENST00000646031.1:c.1340_1359delinsCTGCCTCCTAAGTCTGAAGT (HADHA)
ENST00000646483.1:c.1847_1866delinsCTGCCTCCTAAGTCTGAAGT (HADHA)	ENSP00000496185.1:n.1847_1866delinsCTGCCTCCTAAGTCTGAAGT
ENST00000380649.7:c.1981_2000delinsCTGCCTCCTAAGTCTGAAGT (HADHA)	ENSP00000370023.3:p.Leu661=
ENST00000492433.1:c.439_458delinsCTGCCTCCTAAGTCTGAAGT (HADHA)	ENSP00000438039.1:p.Leu147=
NM_000182.4:c.1981_2000delinsCTGCCTCCTAAGTCTGAAGT (HADHA)	NP_000173.2:p.Leu661=
XM_011532567.1:c.1683+4995_1683+5014delinsACTTCAGACTTAGGAGGCAG (GAREM2)	XP_011530869.1:n.1683+4995_1683+5014delinsACTTCAGACTTAGGAGGCA...
XM_011532567.3:c.1683+4995_1683+5014delinsACTTCAGACTTAGGAGGCAG (GAREM2)	XP_011530869.1:n.1683+4995_1683+5014delinsACTTCAGACTTAGGAGGCA...
NM_000182.5:c.1981_2000delinsCTGCCTCCTAAGTCTGAAGT (HADHA) MANE Select	NP_000173.2:p.Leu661=