Canonical Allele Identifier: CA2740092709

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2943817
• ClinVar RCV Id: RCV003803375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191542_26191566dup , CM000664.2:g.26191542_26191566dup	GRCh38
NC_000002.11:g.26414411_26414435dup , CM000664.1:g.26414411_26414435dup	GRCh37
NC_000002.10:g.26267915_26267939dup	NCBI36
NG_007121.1:g.58055_58079dup
NG_007121.2:g.58056_58080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2063_2087dup (HADHA) MANE Select	ENSP00000370023.3:p.Glu699ArgfsTer?
ENST00000492433.2:c.2063_2087dup (HADHA)	ENSP00000438039.2:p.Glu699ArgfsTer?
ENST00000643057.1:c.*1954_*1978dup (HADHA)	ENSP00000493761.1:n.*1954_*1978dup
ENST00000643063.1:c.*1109_*1133dup (HADHA)	ENSP00000495353.1:n.*1109_*1133dup
ENST00000643233.1:c.*1954_*1978dup (HADHA)	ENSP00000493880.1:n.*1954_*1978dup
ENST00000644428.1:c.*687_*711dup (HADHA)	ENSP00000495560.1:n.*687_*711dup
ENST00000645274.1:c.1958_1982dup (HADHA)	ENSP00000493996.1:p.Glu664ArgfsTer?
ENST00000646031.1:c.1422_1446dup (HADHA)
ENST00000646483.1:c.1929_1953dup (HADHA)	ENSP00000496185.1:n.1929_1953dup
ENST00000380649.7:c.2063_2087dup (HADHA)	ENSP00000370023.3:p.Glu699ArgfsTer?
ENST00000492433.1:c.521_545dup (HADHA)	ENSP00000438039.1:p.Glu185ArgfsTer?
NM_000182.4:c.2063_2087dup (HADHA)	NP_000173.2:p.Glu699ArgfsTer?
XM_011532567.1:c.1683+4227_1683+4251dup (GAREM2)	XP_011530869.1:n.1683+4227_1683+4251dup
XM_011532567.3:c.1683+4227_1683+4251dup (GAREM2)	XP_011530869.1:n.1683+4227_1683+4251dup
NM_000182.5:c.2063_2087dup (HADHA) MANE Select	NP_000173.2:p.Glu699ArgfsTer?