Canonical Allele Identifier: CA767265997

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1169536411
• gnomAD v3: 2-26201698-CAG-C
• gnomAD v4: 2-26201698-CAG-C
• MyVariant Identifiers: chr2:g.26424568_26424569del (hg19) ; chr2:g.26201699_26201700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201699_26201700del , CM000664.2:g.26201699_26201700del	GRCh38
NC_000002.11:g.26424568_26424569del , CM000664.1:g.26424568_26424569del	GRCh37
NC_000002.10:g.26278072_26278073del	NCBI36
NG_007121.1:g.47921_47922del
NG_007121.2:g.47922_47923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1221-380_1221-379del (HADHA) MANE Select	ENSP00000370023.3:n.1221-380_1221-379del
ENST00000492433.2:c.1221-380_1221-379del (HADHA)	ENSP00000438039.2:n.1221-380_1221-379del
ENST00000643057.1:c.*1112-380_*1112-379del (HADHA)	ENSP00000493761.1:n.*1112-380_*1112-379del
ENST00000643063.1:c.*267-380_*267-379del (HADHA)	ENSP00000495353.1:n.*267-380_*267-379del
ENST00000643233.1:c.*1112-380_*1112-379del (HADHA)	ENSP00000493880.1:n.*1112-380_*1112-379del
ENST00000644428.1:c.1221-380_1221-379del (HADHA)	ENSP00000495560.1:n.1221-380_1221-379del
ENST00000645274.1:c.1116-380_1116-379del (HADHA)	ENSP00000493996.1:n.1116-380_1116-379del
ENST00000646031.1:c.580-380_580-379del (HADHA)
ENST00000646483.1:c.1087-380_1087-379del (HADHA)	ENSP00000496185.1:n.1087-380_1087-379del
ENST00000380649.7:c.1221-380_1221-379del (HADHA)	ENSP00000370023.3:n.1221-380_1221-379del
NM_000182.4:c.1221-380_1221-379del (HADHA)	NP_000173.2:n.1221-380_1221-379del
XM_011532567.1:c.1684-534_1684-533del (GAREM2)	XP_011530869.1:n.1684-534_1684-533del
XM_011532567.3:c.1684-534_1684-533del (GAREM2)	XP_011530869.1:n.1684-534_1684-533del
NM_000182.5:c.1221-380_1221-379del (HADHA) MANE Select	NP_000173.2:n.1221-380_1221-379del