Canonical Allele Identifier: CA2573134473

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1452307
• ClinVar RCV Id: RCV001999742
• dbSNP Id: rs2147753555

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195092del , CM000664.2:g.26195092del	GRCh38
NC_000002.11:g.26417961del , CM000664.1:g.26417961del	GRCh37
NC_000002.10:g.26271465del	NCBI36
NG_007121.1:g.54530del
NG_007121.2:g.54531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1620+1del (HADHA)
ENST00000492433.2:c.1620+1del (HADHA)
ENST00000643057.1:c.*1511+1del (HADHA)
ENST00000643063.1:c.*666+1del (HADHA)
ENST00000643233.1:c.*1511+1del (HADHA)
ENST00000644428.1:c.*244+1del (HADHA)
ENST00000645274.1:c.1515+1del (HADHA)
ENST00000646031.1:c.979+1del (HADHA)
ENST00000646483.1:c.1486+1del (HADHA)
ENST00000380649.7:c.1620+1del (HADHA)
ENST00000492433.1:c.78+1del (HADHA)
NM_000182.4:c.1620+1del (HADHA)
XM_011532567.1:c.1684-7141del (GAREM2)	XP_011530869.1:n.1684-7141del
XM_011532567.3:c.1684-7141del (GAREM2)	XP_011530869.1:n.1684-7141del
NM_000182.5:c.1620+1del (HADHA)