Canonical Allele Identifier: CA1028585566

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669483899
• gnomAD v3: 2-26191153-C-CT
• gnomAD v4: 2-26191153-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191154dup , CM000664.2:g.26191154dup	GRCh38
NC_000002.11:g.26414023dup , CM000664.1:g.26414023dup	GRCh37
NC_000002.10:g.26267527dup	NCBI36
NG_007121.1:g.58467dup
NG_007121.2:g.58468dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*96dup (HADHA) MANE Select	ENSP00000370023.3:n.*96dup
ENST00000492433.2:c.*96dup (HADHA)	ENSP00000438039.2:n.*96dup
ENST00000643057.1:c.*2366dup (HADHA)	ENSP00000493761.1:n.*2366dup
ENST00000643063.1:c.*1434dup (HADHA)	ENSP00000495353.1:n.*1434dup
ENST00000643233.1:c.*2279dup (HADHA)	ENSP00000493880.1:n.*2279dup
ENST00000644428.1:c.*1012dup (HADHA)	ENSP00000495560.1:n.*1012dup
ENST00000645274.1:c.*96dup (HADHA)	ENSP00000493996.1:n.*96dup
ENST00000646031.1:c.1747dup (HADHA)
ENST00000380649.7:c.*96dup (HADHA)	ENSP00000370023.3:n.*96dup
NM_000182.4:c.*96dup (HADHA)	NP_000173.2:n.*96dup
XM_011532567.1:c.1683+3839dup (GAREM2)	XP_011530869.1:n.1683+3839dup
XM_011532567.3:c.1683+3839dup (GAREM2)	XP_011530869.1:n.1683+3839dup
NM_000182.5:c.*96dup (HADHA) MANE Select	NP_000173.2:n.*96dup