Canonical Allele Identifier: CA658823090

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 554666
• ClinVar RCV Id: RCV000670342 ; RCV002493107
• dbSNP Id: rs1553311633
• gnomAD v4: 2-26191265-C-CTTGT
• MyVariant Identifiers: chr2:g.26191266_26191269dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191267_26191270dup , CM000664.2:g.26191267_26191270dup	GRCh38
NC_000002.11:g.26414136_26414139dup , CM000664.1:g.26414136_26414139dup	GRCh37
NC_000002.10:g.26267640_26267643dup	NCBI36
NG_007121.1:g.58352_58355dup
NG_007121.2:g.58353_58356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2273_2276dup (HADHA) MANE Select	ENSP00000370023.3:p.Lys760GlnfsTer?
ENST00000492433.2:c.2360_2363dup (HADHA)	ENSP00000438039.2:p.Lys789GlnfsTer?
ENST00000643057.1:c.*2251_*2254dup (HADHA)	ENSP00000493761.1:n.*2251_*2254dup
ENST00000643063.1:c.*1319_*1322dup (HADHA)	ENSP00000495353.1:n.*1319_*1322dup
ENST00000643233.1:c.*2164_*2167dup (HADHA)	ENSP00000493880.1:n.*2164_*2167dup
ENST00000644428.1:c.*897_*900dup (HADHA)	ENSP00000495560.1:n.*897_*900dup
ENST00000645274.1:c.2168_2171dup (HADHA)	ENSP00000493996.1:p.Lys725GlnfsTer?
ENST00000646031.1:c.1632_1635dup (HADHA)
ENST00000646483.1:c.2139_2142dup (HADHA)	ENSP00000496185.1:n.2139_2142dup
ENST00000380649.7:c.2273_2276dup (HADHA)	ENSP00000370023.3:p.Lys760GlnfsTer?
NM_000182.4:c.2273_2276dup (HADHA)	NP_000173.2:p.Lys760GlnfsTer?
XM_011532567.1:c.1683+3952_1683+3955dup (GAREM2)	XP_011530869.1:n.1683+3952_1683+3955dup
XM_011532567.3:c.1683+3952_1683+3955dup (GAREM2)	XP_011530869.1:n.1683+3952_1683+3955dup
NM_000182.5:c.2273_2276dup (HADHA) MANE Select	NP_000173.2:p.Lys760GlnfsTer?