Canonical Allele Identifier: CA2658214821

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191213-G-GGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191214_26191217dup , CM000664.2:g.26191214_26191217dup	GRCh38
NC_000002.11:g.26414083_26414086dup , CM000664.1:g.26414083_26414086dup	GRCh37
NC_000002.10:g.26267587_26267590dup	NCBI36
NG_007121.1:g.58404_58407dup
NG_007121.2:g.58405_58408dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*33_*36dup (HADHA) MANE Select	ENSP00000370023.3:n.*33_*36dup
ENST00000492433.2:c.*33_*36dup (HADHA)	ENSP00000438039.2:n.*33_*36dup
ENST00000643057.1:c.*2303_*2306dup (HADHA)	ENSP00000493761.1:n.*2303_*2306dup
ENST00000643063.1:c.*1371_*1374dup (HADHA)	ENSP00000495353.1:n.*1371_*1374dup
ENST00000643233.1:c.*2216_*2219dup (HADHA)	ENSP00000493880.1:n.*2216_*2219dup
ENST00000644428.1:c.*949_*952dup (HADHA)	ENSP00000495560.1:n.*949_*952dup
ENST00000645274.1:c.*33_*36dup (HADHA)	ENSP00000493996.1:n.*33_*36dup
ENST00000646031.1:c.1684_1687dup (HADHA)
ENST00000380649.7:c.*33_*36dup (HADHA)	ENSP00000370023.3:n.*33_*36dup
NM_000182.4:c.*33_*36dup (HADHA)	NP_000173.2:n.*33_*36dup
XM_011532567.1:c.1683+3899_1683+3902dup (GAREM2)	XP_011530869.1:n.1683+3899_1683+3902dup
XM_011532567.3:c.1683+3899_1683+3902dup (GAREM2)	XP_011530869.1:n.1683+3899_1683+3902dup
NM_000182.5:c.*33_*36dup (HADHA) MANE Select	NP_000173.2:n.*33_*36dup