Canonical Allele Identifier: CA2580066149

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2025539
• ClinVar RCV Id: RCV002853228

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201318_26201321del , CM000664.2:g.26201318_26201321del	GRCh38
NC_000002.11:g.26424187_26424190del , CM000664.1:g.26424187_26424190del	GRCh37
NC_000002.10:g.26277691_26277694del	NCBI36
NG_007121.1:g.48302_48305del
NG_007121.2:g.48303_48306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1222_1225del (HADHA)
ENST00000492433.2:c.1222_1225del (HADHA)
ENST00000643057.1:c.*1113_*1116del (HADHA)
ENST00000643063.1:c.*268_*271del (HADHA)
ENST00000643233.1:c.*1113_*1116del (HADHA)
ENST00000644428.1:c.1222_1225del (HADHA)
ENST00000645274.1:c.1117_1120del (HADHA)
ENST00000646031.1:c.581_584del (HADHA)
ENST00000646483.1:c.1088_1091del (HADHA)
ENST00000380649.7:c.1222_1225del (HADHA)
NM_000182.4:c.1222_1225del (HADHA)
XM_011532567.1:c.1684-915_1684-912del (GAREM2)	XP_011530869.1:n.1684-915_1684-912del
XM_011532567.3:c.1684-915_1684-912del (GAREM2)	XP_011530869.1:n.1684-915_1684-912del
NM_000182.5:c.1222_1225del (HADHA)