Canonical Allele Identifier: CA1239700812

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191401_26191405delinsTAGAG , CM000664.2:g.26191401_26191405delinsTAGAG	GRCh38
NC_000002.11:g.26414270_26414274delinsTAGAG , CM000664.1:g.26414270_26414274delinsTAGAG	GRCh37
NC_000002.10:g.26267774_26267778delinsTAGAG	NCBI36
NG_007121.1:g.58216_58220delinsCTCTA
NG_007121.2:g.58217_58221delinsCTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-10_2147-6delinsCTCTA (HADHA) MANE Select	ENSP00000370023.3:n.2147-10_2147-6delinsCTCTA
ENST00000492433.2:c.2224_2228delinsCTCTA (HADHA)	ENSP00000438039.2:p.Leu742=
ENST00000643057.1:c.*2115_*2119delinsCTCTA (HADHA)	ENSP00000493761.1:n.*2115_*2119delinsCTCTA
ENST00000643063.1:c.*1193-10_*1193-6delinsCTCTA (HADHA)	ENSP00000495353.1:n.*1193-10_*1193-6delinsCTCTA
ENST00000643233.1:c.*2038-10_*2038-6delinsCTCTA (HADHA)	ENSP00000493880.1:n.*2038-10_*2038-6delinsCTCTA
ENST00000644428.1:c.*771-10_*771-6delinsCTCTA (HADHA)	ENSP00000495560.1:n.*771-10_*771-6delinsCTCTA
ENST00000645274.1:c.2042-10_2042-6delinsCTCTA (HADHA)	ENSP00000493996.1:n.2042-10_2042-6delinsCTCTA
ENST00000646031.1:c.1506-10_1506-6delinsCTCTA (HADHA)
ENST00000646483.1:c.2013-10_2013-6delinsCTCTA (HADHA)	ENSP00000496185.1:n.2013-10_2013-6delinsCTCTA
ENST00000380649.7:c.2147-10_2147-6delinsCTCTA (HADHA)	ENSP00000370023.3:n.2147-10_2147-6delinsCTCTA
ENST00000492433.1:c.682_686delinsCTCTA (HADHA)	ENSP00000438039.1:p.Leu228=
NM_000182.4:c.2147-10_2147-6delinsCTCTA (HADHA)	NP_000173.2:n.2147-10_2147-6delinsCTCTA
XM_011532567.1:c.1683+4086_1683+4090delinsTAGAG (GAREM2)	XP_011530869.1:n.1683+4086_1683+4090delinsTAGAG
XM_011532567.3:c.1683+4086_1683+4090delinsTAGAG (GAREM2)	XP_011530869.1:n.1683+4086_1683+4090delinsTAGAG
NM_000182.5:c.2147-10_2147-6delinsCTCTA (HADHA) MANE Select	NP_000173.2:n.2147-10_2147-6delinsCTCTA