Canonical Allele Identifier: CA1559522

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 558276
• ClinVar RCV Id: RCV000674517 ; RCV002531352 ; RCV003144476
• dbSNP Id: rs764557236
• ExAC: 2:26417954 CCCTTA / C
• gnomAD v2: 2-26417954-CCCTTA-C
• gnomAD v4: 2-26195085-CCCTTA-C
• MyVariant Identifiers: chr2:g.26417955_26417959del (hg19) ; chr2:g.26417955_26417959delCCTTA (hg19) ; chr2:g.26195086_26195090del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195091_26195095del , CM000664.2:g.26195091_26195095del	GRCh38
NC_000002.11:g.26417960_26417964del , CM000664.1:g.26417960_26417964del	GRCh37
NC_000002.10:g.26271464_26271468del	NCBI36
NG_007121.1:g.54531_54535del
NG_007121.2:g.54532_54536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1620+2_1620+6del (HADHA)
ENST00000492433.2:c.1620+2_1620+6del (HADHA)
ENST00000643057.1:c.*1511+2_*1511+6del (HADHA)
ENST00000643063.1:c.*666+2_*666+6del (HADHA)
ENST00000643233.1:c.*1511+2_*1511+6del (HADHA)
ENST00000644428.1:c.*244+2_*244+6del (HADHA)
ENST00000645274.1:c.1515+2_1515+6del (HADHA)
ENST00000646031.1:c.979+2_979+6del (HADHA)
ENST00000646483.1:c.1486+2_1486+6del (HADHA)
ENST00000380649.7:c.1620+2_1620+6del (HADHA)
ENST00000492433.1:c.78+2_78+6del (HADHA)
NM_000182.4:c.1620+2_1620+6del (HADHA)
XM_011532567.1:c.1684-7142_1684-7138del (GAREM2)	XP_011530869.1:n.1684-7142_1684-7138del
XM_011532567.3:c.1684-7142_1684-7138del (GAREM2)	XP_011530869.1:n.1684-7142_1684-7138del
NM_000182.5:c.1620+2_1620+6del (HADHA)