Canonical Allele Identifier: CA1139656774

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 978225
• ClinVar RCV Id: RCV001256193
• dbSNP Id: rs1669501514

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191492_26191496dup , CM000664.2:g.26191492_26191496dup	GRCh38
NC_000002.11:g.26414361_26414365dup , CM000664.1:g.26414361_26414365dup	GRCh37
NC_000002.10:g.26267865_26267869dup	NCBI36
NG_007121.1:g.58126_58130dup
NG_007121.2:g.58127_58131dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.2134_2138dup (HADHA) MANE Select	ENSP00000370023.3:p.Gly715ValfsTer17
ENST00000492433.2:c.2134_2138dup (HADHA)	ENSP00000438039.2:p.Gly715ValfsTer15
ENST00000643057.1:c.*2025_*2029dup (HADHA)	ENSP00000493761.1:n.*2025_*2029dup
ENST00000643063.1:c.*1180_*1184dup (HADHA)	ENSP00000495353.1:n.*1180_*1184dup
ENST00000643233.1:c.*2025_*2029dup (HADHA)	ENSP00000493880.1:n.*2025_*2029dup
ENST00000644428.1:c.*758_*762dup (HADHA)	ENSP00000495560.1:n.*758_*762dup
ENST00000645274.1:c.2029_2033dup (HADHA)	ENSP00000493996.1:p.Gly680ValfsTer17
ENST00000646031.1:c.1493_1497dup (HADHA)
ENST00000646483.1:c.2000_2004dup (HADHA)	ENSP00000496185.1:n.2000_2004dup
ENST00000380649.7:c.2134_2138dup (HADHA)	ENSP00000370023.3:p.Gly715ValfsTer17
ENST00000492433.1:c.592_596dup (HADHA)	ENSP00000438039.1:p.Gly201ValfsTer15
NM_000182.4:c.2134_2138dup (HADHA)	NP_000173.2:p.Gly715ValfsTer17
XM_011532567.1:c.1683+4177_1683+4181dup (GAREM2)	XP_011530869.1:n.1683+4177_1683+4181dup
XM_011532567.3:c.1683+4177_1683+4181dup (GAREM2)	XP_011530869.1:n.1683+4177_1683+4181dup
NM_000182.5:c.2134_2138dup (HADHA) MANE Select	NP_000173.2:p.Gly715ValfsTer17