Canonical Allele Identifier: CA2658215133

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191396-C-CTGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191398_26191401dup , CM000664.2:g.26191398_26191401dup	GRCh38
NC_000002.11:g.26414267_26414270dup , CM000664.1:g.26414267_26414270dup	GRCh37
NC_000002.10:g.26267771_26267774dup	NCBI36
NG_007121.1:g.58221_58224dup
NG_007121.2:g.58222_58225dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.2147-5_2147-2dup (HADHA) MANE Select	ENSP00000370023.3:n.2147-5_2147-2dup
ENST00000492433.2:c.2229_2232dup (HADHA)	ENSP00000438039.2:p.Gly745PhefsTer23
ENST00000643057.1:c.*2120_*2123dup (HADHA)	ENSP00000493761.1:n.*2120_*2123dup
ENST00000643063.1:c.*1193-5_*1193-2dup (HADHA)	ENSP00000495353.1:n.*1193-5_*1193-2dup
ENST00000643233.1:c.*2038-5_*2038-2dup (HADHA)	ENSP00000493880.1:n.*2038-5_*2038-2dup
ENST00000644428.1:c.*771-5_*771-2dup (HADHA)	ENSP00000495560.1:n.*771-5_*771-2dup
ENST00000645274.1:c.2042-5_2042-2dup (HADHA)	ENSP00000493996.1:n.2042-5_2042-2dup
ENST00000646031.1:c.1506-5_1506-2dup (HADHA)
ENST00000646483.1:c.2013-5_2013-2dup (HADHA)	ENSP00000496185.1:n.2013-5_2013-2dup
ENST00000380649.7:c.2147-5_2147-2dup (HADHA)	ENSP00000370023.3:n.2147-5_2147-2dup
ENST00000492433.1:c.687_690dup (HADHA)	ENSP00000438039.1:p.Gly231PhefsTer?
NM_000182.4:c.2147-5_2147-2dup (HADHA)	NP_000173.2:n.2147-5_2147-2dup
XM_011532567.1:c.1683+4083_1683+4086dup (GAREM2)	XP_011530869.1:n.1683+4083_1683+4086dup
XM_011532567.3:c.1683+4083_1683+4086dup (GAREM2)	XP_011530869.1:n.1683+4083_1683+4086dup
NM_000182.5:c.2147-5_2147-2dup (HADHA) MANE Select	NP_000173.2:n.2147-5_2147-2dup