Canonical Allele Identifier: CA2576696524

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191408dup , CM000664.2:g.26191408dup	GRCh38
NC_000002.11:g.26414277dup , CM000664.1:g.26414277dup	GRCh37
NC_000002.10:g.26267781dup	NCBI36
NG_007121.1:g.58215dup
NG_007121.2:g.58216dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-11dup (HADHA) MANE Select	ENSP00000370023.3:n.2147-11dup
ENST00000492433.2:c.2223dup (HADHA)	ENSP00000438039.2:p.Leu742SerfsTer25
ENST00000643057.1:c.*2114dup (HADHA)	ENSP00000493761.1:n.*2114dup
ENST00000643063.1:c.*1193-11dup (HADHA)	ENSP00000495353.1:n.*1193-11dup
ENST00000643233.1:c.*2038-11dup (HADHA)	ENSP00000493880.1:n.*2038-11dup
ENST00000644428.1:c.*771-11dup (HADHA)	ENSP00000495560.1:n.*771-11dup
ENST00000645274.1:c.2042-11dup (HADHA)	ENSP00000493996.1:n.2042-11dup
ENST00000646031.1:c.1506-11dup (HADHA)
ENST00000646483.1:c.2013-11dup (HADHA)	ENSP00000496185.1:n.2013-11dup
ENST00000380649.7:c.2147-11dup (HADHA)	ENSP00000370023.3:n.2147-11dup
ENST00000492433.1:c.681dup (HADHA)	ENSP00000438039.1:p.Leu228SerfsTer?
NM_000182.4:c.2147-11dup (HADHA)	NP_000173.2:n.2147-11dup
XM_011532567.1:c.1683+4093dup (GAREM2)	XP_011530869.1:n.1683+4093dup
XM_011532567.3:c.1683+4093dup (GAREM2)	XP_011530869.1:n.1683+4093dup
NM_000182.5:c.2147-11dup (HADHA) MANE Select	NP_000173.2:n.2147-11dup