Canonical Allele Identifier: CA2658214921

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191261-A-ACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191265_26191267dup , CM000664.2:g.26191265_26191267dup	GRCh38
NC_000002.11:g.26414134_26414136dup , CM000664.1:g.26414134_26414136dup	GRCh37
NC_000002.10:g.26267638_26267640dup	NCBI36
NG_007121.1:g.58357_58359dup
NG_007121.2:g.58358_58360dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2278_2280dup (HADHA) MANE Select	ENSP00000370023.3:p.Lys760_Phe761insLys
ENST00000492433.2:c.2365_2367dup (HADHA)	ENSP00000438039.2:p.Lys789_Phe790insLys
ENST00000643057.1:c.*2256_*2258dup (HADHA)	ENSP00000493761.1:n.*2256_*2258dup
ENST00000643063.1:c.*1324_*1326dup (HADHA)	ENSP00000495353.1:n.*1324_*1326dup
ENST00000643233.1:c.*2169_*2171dup (HADHA)	ENSP00000493880.1:n.*2169_*2171dup
ENST00000644428.1:c.*902_*904dup (HADHA)	ENSP00000495560.1:n.*902_*904dup
ENST00000645274.1:c.2173_2175dup (HADHA)	ENSP00000493996.1:p.Lys725_Phe726insLys
ENST00000646031.1:c.1637_1639dup (HADHA)
ENST00000646483.1:c.2144_2146dup (HADHA)	ENSP00000496185.1:n.2144_2146dup
ENST00000380649.7:c.2278_2280dup (HADHA)	ENSP00000370023.3:p.Lys760_Phe761insLys
NM_000182.4:c.2278_2280dup (HADHA)	NP_000173.2:p.Lys760_Phe761insLys
XM_011532567.1:c.1683+3950_1683+3952dup (GAREM2)	XP_011530869.1:n.1683+3950_1683+3952dup
XM_011532567.3:c.1683+3950_1683+3952dup (GAREM2)	XP_011530869.1:n.1683+3950_1683+3952dup
NM_000182.5:c.2278_2280dup (HADHA) MANE Select	NP_000173.2:p.Lys760_Phe761insLys