Canonical Allele Identifier: CA531391292

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1272001557
• gnomAD v2: 2-26414097-CTG-C
• gnomAD v4: 2-26191228-CTG-C
• MyVariant Identifiers: chr2:g.26414098_26414099del (hg19) ; chr2:g.26191229_26191230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191229_26191230del , CM000664.2:g.26191229_26191230del	GRCh38
NC_000002.11:g.26414098_26414099del , CM000664.1:g.26414098_26414099del	GRCh37
NC_000002.10:g.26267602_26267603del	NCBI36
NG_007121.1:g.58391_58392del
NG_007121.2:g.58392_58393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*20_*21del (HADHA) MANE Select	ENSP00000370023.3:n.*20_*21del
ENST00000492433.2:c.*20_*21del (HADHA)	ENSP00000438039.2:n.*20_*21del
ENST00000643057.1:c.*2290_*2291del (HADHA)	ENSP00000493761.1:n.*2290_*2291del
ENST00000643063.1:c.*1358_*1359del (HADHA)	ENSP00000495353.1:n.*1358_*1359del
ENST00000643233.1:c.*2203_*2204del (HADHA)	ENSP00000493880.1:n.*2203_*2204del
ENST00000644428.1:c.*936_*937del (HADHA)	ENSP00000495560.1:n.*936_*937del
ENST00000645274.1:c.*20_*21del (HADHA)	ENSP00000493996.1:n.*20_*21del
ENST00000646031.1:c.1671_1672del (HADHA)
ENST00000380649.7:c.*20_*21del (HADHA)	ENSP00000370023.3:n.*20_*21del
NM_000182.4:c.*20_*21del (HADHA)	NP_000173.2:n.*20_*21del
XM_011532567.1:c.1683+3914_1683+3915del (GAREM2)	XP_011530869.1:n.1683+3914_1683+3915del
XM_011532567.3:c.1683+3914_1683+3915del (GAREM2)	XP_011530869.1:n.1683+3914_1683+3915del
NM_000182.5:c.*20_*21del (HADHA) MANE Select	NP_000173.2:n.*20_*21del