Canonical Allele Identifier: CA44376164

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs958103194
• gnomAD v4: 2-26191130-AACC-A
• MyVariant Identifiers: chr2:g.26414000_26414002del (hg19) ; chr2:g.26191131_26191133del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191131_26191133del , CM000664.2:g.26191131_26191133del	GRCh38
NC_000002.11:g.26414000_26414002del , CM000664.1:g.26414000_26414002del	GRCh37
NC_000002.10:g.26267504_26267506del	NCBI36
NG_007121.1:g.58488_58490del
NG_007121.2:g.58489_58491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*117_*119del (HADHA) MANE Select	ENSP00000370023.3:n.*117_*119del
ENST00000492433.2:c.*117_*119del (HADHA)	ENSP00000438039.2:n.*117_*119del
ENST00000643057.1:c.*2387_*2389del (HADHA)	ENSP00000493761.1:n.*2387_*2389del
ENST00000643063.1:c.*1455_*1457del (HADHA)	ENSP00000495353.1:n.*1455_*1457del
ENST00000643233.1:c.*2300_*2302del (HADHA)	ENSP00000493880.1:n.*2300_*2302del
ENST00000644428.1:c.*1033_*1035del (HADHA)	ENSP00000495560.1:n.*1033_*1035del
ENST00000645274.1:c.*117_*119del (HADHA)	ENSP00000493996.1:n.*117_*119del
ENST00000646031.1:c.1768_1770del (HADHA)
ENST00000380649.7:c.*117_*119del (HADHA)	ENSP00000370023.3:n.*117_*119del
NM_000182.4:c.*117_*119del (HADHA)	NP_000173.2:n.*117_*119del
XM_011532567.1:c.1683+3816_1683+3818del (GAREM2)	XP_011530869.1:n.1683+3816_1683+3818del
XM_011532567.3:c.1683+3816_1683+3818del (GAREM2)	XP_011530869.1:n.1683+3816_1683+3818del
NM_000182.5:c.*117_*119del (HADHA) MANE Select	NP_000173.2:n.*117_*119del