Canonical Allele Identifier: CA1559374

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs753068811
• ExAC: 2:26414387 GCTCCGATGT / G
• gnomAD v2: 2-26414387-GCTCCGATGT-G
• gnomAD v4: 2-26191518-GCTCCGATGT-G
• MyVariant Identifiers: chr2:g.26414388_26414396del (hg19) ; chr2:g.26191519_26191527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191523_26191531del , CM000664.2:g.26191523_26191531del	GRCh38
NC_000002.11:g.26414392_26414400del , CM000664.1:g.26414392_26414400del	GRCh37
NC_000002.10:g.26267896_26267904del	NCBI36
NG_007121.1:g.58094_58102del
NG_007121.2:g.58095_58103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2102_2110del (HADHA) MANE Select	ENSP00000370023.3:p.Asp701_Gly703del
ENST00000492433.2:c.2102_2110del (HADHA)	ENSP00000438039.2:p.Asp701_Gly703del
ENST00000643057.1:c.*1993_*2001del (HADHA)	ENSP00000493761.1:n.*1993_*2001del
ENST00000643063.1:c.*1148_*1156del (HADHA)	ENSP00000495353.1:n.*1148_*1156del
ENST00000643233.1:c.*1993_*2001del (HADHA)	ENSP00000493880.1:n.*1993_*2001del
ENST00000644428.1:c.*726_*734del (HADHA)	ENSP00000495560.1:n.*726_*734del
ENST00000645274.1:c.1997_2005del (HADHA)	ENSP00000493996.1:p.Asp666_Gly668del
ENST00000646031.1:c.1461_1469del (HADHA)
ENST00000646483.1:c.1968_1976del (HADHA)	ENSP00000496185.1:n.1968_1976del
ENST00000380649.7:c.2102_2110del (HADHA)	ENSP00000370023.3:p.Asp701_Gly703del
ENST00000492433.1:c.560_568del (HADHA)	ENSP00000438039.1:p.Asp187_Gly189del
NM_000182.4:c.2102_2110del (HADHA)	NP_000173.2:p.Asp701_Gly703del
XM_011532567.1:c.1683+4208_1683+4216del (GAREM2)	XP_011530869.1:n.1683+4208_1683+4216del
XM_011532567.3:c.1683+4208_1683+4216del (GAREM2)	XP_011530869.1:n.1683+4208_1683+4216del
NM_000182.5:c.2102_2110del (HADHA) MANE Select	NP_000173.2:p.Asp701_Gly703del