Canonical Allele Identifier: CA2499215827

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1073572
• ClinVar RCV Id: RCV001386605
• dbSNP Id: rs2147759662

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201225dup , CM000664.2:g.26201225dup	GRCh38
NC_000002.11:g.26424094dup , CM000664.1:g.26424094dup	GRCh37
NC_000002.10:g.26277598dup	NCBI36
NG_007121.1:g.48399dup
NG_007121.2:g.48400dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1319dup (HADHA) MANE Select	ENSP00000370023.3:p.Ala441GlyfsTer6
ENST00000492433.2:c.1319dup (HADHA)	ENSP00000438039.2:p.Ala441GlyfsTer6
ENST00000643057.1:c.*1210dup (HADHA)	ENSP00000493761.1:n.*1210dup
ENST00000643063.1:c.*365dup (HADHA)	ENSP00000495353.1:n.*365dup
ENST00000643233.1:c.*1210dup (HADHA)	ENSP00000493880.1:n.*1210dup
ENST00000644428.1:c.1319dup (HADHA)	ENSP00000495560.1:p.Ala441GlyfsTer6
ENST00000645274.1:c.1214dup (HADHA)	ENSP00000493996.1:p.Ala406GlyfsTer6
ENST00000646031.1:c.678dup (HADHA)
ENST00000646483.1:c.1185dup (HADHA)	ENSP00000496185.1:n.1185dup
ENST00000380649.7:c.1319dup (HADHA)	ENSP00000370023.3:p.Ala441GlyfsTer6
NM_000182.4:c.1319dup (HADHA)	NP_000173.2:p.Ala441GlyfsTer6
XM_011532567.1:c.1684-1008dup (GAREM2)	XP_011530869.1:n.1684-1008dup
XM_011532567.3:c.1684-1008dup (GAREM2)	XP_011530869.1:n.1684-1008dup
NM_000182.5:c.1319dup (HADHA) MANE Select	NP_000173.2:p.Ala441GlyfsTer6