Canonical Allele Identifier: CA2658210830

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26192420-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192421del , CM000664.2:g.26192421del	GRCh38
NC_000002.11:g.26415290del , CM000664.1:g.26415290del	GRCh37
NC_000002.10:g.26268794del	NCBI36
NG_007121.1:g.57200del
NG_007121.2:g.57201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1889del (HADHA) MANE Select	ENSP00000370023.3:p.Arg630LeufsTer14
ENST00000492433.2:c.1889del (HADHA)	ENSP00000438039.2:p.Arg630LeufsTer14
ENST00000643057.1:c.*1780del (HADHA)	ENSP00000493761.1:n.*1780del
ENST00000643063.1:c.*935del (HADHA)	ENSP00000495353.1:n.*935del
ENST00000643233.1:c.*1780del (HADHA)	ENSP00000493880.1:n.*1780del
ENST00000644428.1:c.*513del (HADHA)	ENSP00000495560.1:n.*513del
ENST00000645274.1:c.1784del (HADHA)	ENSP00000493996.1:p.Arg595LeufsTer14
ENST00000646031.1:c.1248del (HADHA)
ENST00000646483.1:c.1755del (HADHA)	ENSP00000496185.1:n.1755del
ENST00000380649.7:c.1889del (HADHA)	ENSP00000370023.3:p.Arg630LeufsTer14
ENST00000492433.1:c.347del (HADHA)	ENSP00000438039.1:p.Arg116LeufsTer14
NM_000182.4:c.1889del (HADHA)	NP_000173.2:p.Arg630LeufsTer14
XM_011532567.1:c.1683+5106del (GAREM2)	XP_011530869.1:n.1683+5106del
XM_011532567.3:c.1683+5106del (GAREM2)	XP_011530869.1:n.1683+5106del
NM_000182.5:c.1889del (HADHA) MANE Select	NP_000173.2:p.Arg630LeufsTer14