Canonical Allele Identifier: CA913187423

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 8733
• ClinVar RCV Id: RCV000009272 ; RCV003311654 ; RCV003466842 ; RCV003764540
• dbSNP Id: rs1574600309
• gnomAD v4: 2-26191496-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191499dup , CM000664.2:g.26191499dup	GRCh38
NC_000002.11:g.26414368dup , CM000664.1:g.26414368dup	GRCh37
NC_000002.10:g.26267872dup	NCBI36
NG_007121.1:g.58124dup
NG_007121.2:g.58125dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2132dup (HADHA) MANE Select	ENSP00000370023.3:p.Pro712AlafsTer26
ENST00000492433.2:c.2132dup (HADHA)	ENSP00000438039.2:p.Pro712AlafsTer?
ENST00000643057.1:c.*2023dup (HADHA)	ENSP00000493761.1:n.*2023dup
ENST00000643063.1:c.*1178dup (HADHA)	ENSP00000495353.1:n.*1178dup
ENST00000643233.1:c.*2023dup (HADHA)	ENSP00000493880.1:n.*2023dup
ENST00000644428.1:c.*756dup (HADHA)	ENSP00000495560.1:n.*756dup
ENST00000645274.1:c.2027dup (HADHA)	ENSP00000493996.1:p.Pro677AlafsTer26
ENST00000646031.1:c.1491dup (HADHA)
ENST00000646483.1:c.1998dup (HADHA)	ENSP00000496185.1:n.1998dup
ENST00000380649.7:c.2132dup (HADHA)	ENSP00000370023.3:p.Pro712AlafsTer26
ENST00000492433.1:c.590dup (HADHA)	ENSP00000438039.1:p.Pro198AlafsTer?
NM_000182.4:c.2132dup (HADHA)	NP_000173.2:p.Pro712AlafsTer26
XM_011532567.1:c.1683+4184dup (GAREM2)	XP_011530869.1:n.1683+4184dup
XM_011532567.3:c.1683+4184dup (GAREM2)	XP_011530869.1:n.1683+4184dup
NM_000182.5:c.2132dup (HADHA) MANE Select	NP_000173.2:p.Pro712AlafsTer26