Canonical Allele Identifier: CA199115

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 189089
• ClinVar RCV Id: RCV000169495 ; RCV001193146 ; RCV002498845
• dbSNP Id: rs749848370
• ExAC: 2:26415179 ACTTCAGACTTAGGAGGCAG / A
• gnomAD v2: 2-26415179-ACTTCAGACTTAGGAGGCAG-A
• gnomAD v4: 2-26192310-ACTTCAGACTTAGGAGGCAG-A
• MyVariant Identifiers: chr2:g.26415180_26415198del (hg19) ; chr2:g.26192311_26192329del (hg38)
• PubMed: PMID:21549624

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192320_26192338del , CM000664.2:g.26192320_26192338del	GRCh38
NC_000002.11:g.26415189_26415207del , CM000664.1:g.26415189_26415207del	GRCh37
NC_000002.10:g.26268693_26268711del	NCBI36
NG_007121.1:g.57292_57310del
NG_007121.2:g.57293_57311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1981_1999del (HADHA) MANE Select	ENSP00000370023.3:p.Leu661SerfsTer12
ENST00000492433.2:c.1981_1999del (HADHA)	ENSP00000438039.2:p.Leu661SerfsTer12
ENST00000643057.1:c.*1872_*1890del (HADHA)	ENSP00000493761.1:n.*1872_*1890del
ENST00000643063.1:c.*1027_*1045del (HADHA)	ENSP00000495353.1:n.*1027_*1045del
ENST00000643233.1:c.*1872_*1890del (HADHA)	ENSP00000493880.1:n.*1872_*1890del
ENST00000644428.1:c.*605_*623del (HADHA)	ENSP00000495560.1:n.*605_*623del
ENST00000645274.1:c.1876_1894del (HADHA)	ENSP00000493996.1:p.Leu626SerfsTer12
ENST00000646031.1:c.1340_1358del (HADHA)
ENST00000646483.1:c.1847_1865del (HADHA)	ENSP00000496185.1:n.1847_1865del
ENST00000380649.7:c.1981_1999del (HADHA)	ENSP00000370023.3:p.Leu661SerfsTer12
ENST00000492433.1:c.439_457del (HADHA)	ENSP00000438039.1:p.Leu147SerfsTer12
NM_000182.4:c.1981_1999del (HADHA)	NP_000173.2:p.Leu661SerfsTer12
XM_011532567.1:c.1683+5005_1683+5023del (GAREM2)	XP_011530869.1:n.1683+5005_1683+5023del
XM_011532567.3:c.1683+5005_1683+5023del (GAREM2)	XP_011530869.1:n.1683+5005_1683+5023del
NM_000182.5:c.1981_1999del (HADHA) MANE Select	NP_000173.2:p.Leu661SerfsTer12