Canonical Allele Identifier: CA1028585580

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669485243
• gnomAD v3: 2-26191183-CTGT-C
• gnomAD v4: 2-26191183-CTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191186_26191188del , CM000664.2:g.26191186_26191188del	GRCh38
NC_000002.11:g.26414055_26414057del , CM000664.1:g.26414055_26414057del	GRCh37
NC_000002.10:g.26267559_26267561del	NCBI36
NG_007121.1:g.58435_58437del
NG_007121.2:g.58436_58438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*64_*66del (HADHA) MANE Select	ENSP00000370023.3:n.*64_*66del
ENST00000492433.2:c.*64_*66del (HADHA)	ENSP00000438039.2:n.*64_*66del
ENST00000643057.1:c.*2334_*2336del (HADHA)	ENSP00000493761.1:n.*2334_*2336del
ENST00000643063.1:c.*1402_*1404del (HADHA)	ENSP00000495353.1:n.*1402_*1404del
ENST00000643233.1:c.*2247_*2249del (HADHA)	ENSP00000493880.1:n.*2247_*2249del
ENST00000644428.1:c.*980_*982del (HADHA)	ENSP00000495560.1:n.*980_*982del
ENST00000645274.1:c.*64_*66del (HADHA)	ENSP00000493996.1:n.*64_*66del
ENST00000646031.1:c.1715_1717del (HADHA)
ENST00000380649.7:c.*64_*66del (HADHA)	ENSP00000370023.3:n.*64_*66del
NM_000182.4:c.*64_*66del (HADHA)	NP_000173.2:n.*64_*66del
XM_011532567.1:c.1683+3871_1683+3873del (GAREM2)	XP_011530869.1:n.1683+3871_1683+3873del
XM_011532567.3:c.1683+3871_1683+3873del (GAREM2)	XP_011530869.1:n.1683+3871_1683+3873del
NM_000182.5:c.*64_*66del (HADHA) MANE Select	NP_000173.2:n.*64_*66del