Canonical Allele Identifier: CA2658211023

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26192537-A-AAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192537_26192538insAAGT , CM000664.2:g.26192537_26192538insAAGT	GRCh38
NC_000002.11:g.26415406_26415407insAAGT , CM000664.1:g.26415406_26415407insAAGT	GRCh37
NC_000002.10:g.26268910_26268911insAAGT	NCBI36
NG_007121.1:g.57083_57084insACTT
NG_007121.2:g.57084_57085insACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1886-114_1886-113insACTT (HADHA) MANE Select	ENSP00000370023.3:n.1886-114_1886-113insACTT
ENST00000492433.2:c.1886-114_1886-113insACTT (HADHA)	ENSP00000438039.2:n.1886-114_1886-113insACTT
ENST00000643057.1:c.*1777-114_*1777-113insACTT (HADHA)	ENSP00000493761.1:n.*1777-114_*1777-113insACTT
ENST00000643063.1:c.*932-114_*932-113insACTT (HADHA)	ENSP00000495353.1:n.*932-114_*932-113insACTT
ENST00000643233.1:c.*1777-114_*1777-113insACTT (HADHA)	ENSP00000493880.1:n.*1777-114_*1777-113insACTT
ENST00000644428.1:c.*510-114_*510-113insACTT (HADHA)	ENSP00000495560.1:n.*510-114_*510-113insACTT
ENST00000645274.1:c.1781-114_1781-113insACTT (HADHA)	ENSP00000493996.1:n.1781-114_1781-113insACTT
ENST00000646031.1:c.1245-114_1245-113insACTT (HADHA)
ENST00000646483.1:c.1752-114_1752-113insACTT (HADHA)	ENSP00000496185.1:n.1752-114_1752-113insACTT
ENST00000380649.7:c.1886-114_1886-113insACTT (HADHA)	ENSP00000370023.3:n.1886-114_1886-113insACTT
ENST00000492433.1:c.344-114_344-113insACTT (HADHA)	ENSP00000438039.1:n.344-114_344-113insACTT
NM_000182.4:c.1886-114_1886-113insACTT (HADHA)	NP_000173.2:n.1886-114_1886-113insACTT
XM_011532567.1:c.1683+5222_1683+5223insAAGT (GAREM2)	XP_011530869.1:n.1683+5222_1683+5223insAAGT
XM_011532567.3:c.1683+5222_1683+5223insAAGT (GAREM2)	XP_011530869.1:n.1683+5222_1683+5223insAAGT
NM_000182.5:c.1886-114_1886-113insACTT (HADHA) MANE Select	NP_000173.2:n.1886-114_1886-113insACTT