Canonical Allele Identifier: CA2740092710

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2941242
• ClinVar RCV Id: RCV003792504

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191590_26191591dup , CM000664.2:g.26191590_26191591dup	GRCh38
NC_000002.11:g.26414459_26414460dup , CM000664.1:g.26414459_26414460dup	GRCh37
NC_000002.10:g.26267963_26267964dup	NCBI36
NG_007121.1:g.58031_58032dup
NG_007121.2:g.58032_58033dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2039_2040dup (HADHA) MANE Select	ENSP00000370023.3:p.Phe681AspfsTer3
ENST00000492433.2:c.2039_2040dup (HADHA)	ENSP00000438039.2:p.Phe681AspfsTer3
ENST00000643057.1:c.*1930_*1931dup (HADHA)	ENSP00000493761.1:n.*1930_*1931dup
ENST00000643063.1:c.*1085_*1086dup (HADHA)	ENSP00000495353.1:n.*1085_*1086dup
ENST00000643233.1:c.*1930_*1931dup (HADHA)	ENSP00000493880.1:n.*1930_*1931dup
ENST00000644428.1:c.*663_*664dup (HADHA)	ENSP00000495560.1:n.*663_*664dup
ENST00000645274.1:c.1934_1935dup (HADHA)	ENSP00000493996.1:p.Phe646AspfsTer3
ENST00000646031.1:c.1398_1399dup (HADHA)
ENST00000646483.1:c.1905_1906dup (HADHA)	ENSP00000496185.1:n.1905_1906dup
ENST00000380649.7:c.2039_2040dup (HADHA)	ENSP00000370023.3:p.Phe681AspfsTer3
ENST00000492433.1:c.497_498dup (HADHA)	ENSP00000438039.1:p.Phe167AspfsTer3
NM_000182.4:c.2039_2040dup (HADHA)	NP_000173.2:p.Phe681AspfsTer3
XM_011532567.1:c.1683+4275_1683+4276dup (GAREM2)	XP_011530869.1:n.1683+4275_1683+4276dup
XM_011532567.3:c.1683+4275_1683+4276dup (GAREM2)	XP_011530869.1:n.1683+4275_1683+4276dup
NM_000182.5:c.2039_2040dup (HADHA) MANE Select	NP_000173.2:p.Phe681AspfsTer3