Canonical Allele Identifier: CA1239705392

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201698_26201700delinsCAG , CM000664.2:g.26201698_26201700delinsCAG	GRCh38
NC_000002.11:g.26424567_26424569delinsCAG , CM000664.1:g.26424567_26424569delinsCAG	GRCh37
NC_000002.10:g.26278071_26278073delinsCAG	NCBI36
NG_007121.1:g.47921_47923delinsCTG
NG_007121.2:g.47922_47924delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1221-380_1221-378delinsCTG (HADHA) MANE Select	ENSP00000370023.3:n.1221-380_1221-378delinsCTG
ENST00000492433.2:c.1221-380_1221-378delinsCTG (HADHA)	ENSP00000438039.2:n.1221-380_1221-378delinsCTG
ENST00000643057.1:c.*1112-380_*1112-378delinsCTG (HADHA)	ENSP00000493761.1:n.*1112-380_*1112-378delinsCTG
ENST00000643063.1:c.*267-380_*267-378delinsCTG (HADHA)	ENSP00000495353.1:n.*267-380_*267-378delinsCTG
ENST00000643233.1:c.*1112-380_*1112-378delinsCTG (HADHA)	ENSP00000493880.1:n.*1112-380_*1112-378delinsCTG
ENST00000644428.1:c.1221-380_1221-378delinsCTG (HADHA)	ENSP00000495560.1:n.1221-380_1221-378delinsCTG
ENST00000645274.1:c.1116-380_1116-378delinsCTG (HADHA)	ENSP00000493996.1:n.1116-380_1116-378delinsCTG
ENST00000646031.1:c.580-380_580-378delinsCTG (HADHA)
ENST00000646483.1:c.1087-380_1087-378delinsCTG (HADHA)	ENSP00000496185.1:n.1087-380_1087-378delinsCTG
ENST00000380649.7:c.1221-380_1221-378delinsCTG (HADHA)	ENSP00000370023.3:n.1221-380_1221-378delinsCTG
NM_000182.4:c.1221-380_1221-378delinsCTG (HADHA)	NP_000173.2:n.1221-380_1221-378delinsCTG
XM_011532567.1:c.1684-535_1684-533delinsCAG (GAREM2)	XP_011530869.1:n.1684-535_1684-533delinsCAG
XM_011532567.3:c.1684-535_1684-533delinsCAG (GAREM2)	XP_011530869.1:n.1684-535_1684-533delinsCAG
NM_000182.5:c.1221-380_1221-378delinsCTG (HADHA) MANE Select	NP_000173.2:n.1221-380_1221-378delinsCTG