Canonical Allele Identifier: CA2740092774

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2922371
• ClinVar RCV Id: RCV003785585

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201177_26201180dup , CM000664.2:g.26201177_26201180dup	GRCh38
NC_000002.11:g.26424046_26424049dup , CM000664.1:g.26424046_26424049dup	GRCh37
NC_000002.10:g.26277550_26277553dup	NCBI36
NG_007121.1:g.48441_48444dup
NG_007121.2:g.48442_48445dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1361_1364dup (HADHA) MANE Select	ENSP00000370023.3:p.Lys455AsnfsTer2
ENST00000492433.2:c.1361_1364dup (HADHA)	ENSP00000438039.2:p.Lys455AsnfsTer2
ENST00000643057.1:c.*1252_*1255dup (HADHA)	ENSP00000493761.1:n.*1252_*1255dup
ENST00000643063.1:c.*407_*410dup (HADHA)	ENSP00000495353.1:n.*407_*410dup
ENST00000643233.1:c.*1252_*1255dup (HADHA)	ENSP00000493880.1:n.*1252_*1255dup
ENST00000644428.1:c.1361_1364dup (HADHA)	ENSP00000495560.1:p.Lys455AsnfsTer2
ENST00000645274.1:c.1256_1259dup (HADHA)	ENSP00000493996.1:p.Lys420AsnfsTer2
ENST00000646031.1:c.720_723dup (HADHA)
ENST00000646483.1:c.1227_1230dup (HADHA)	ENSP00000496185.1:n.1227_1230dup
ENST00000380649.7:c.1361_1364dup (HADHA)	ENSP00000370023.3:p.Lys455AsnfsTer2
NM_000182.4:c.1361_1364dup (HADHA)	NP_000173.2:p.Lys455AsnfsTer2
XM_011532567.1:c.1684-1056_1684-1053dup (GAREM2)	XP_011530869.1:n.1684-1056_1684-1053dup
XM_011532567.3:c.1684-1056_1684-1053dup (GAREM2)	XP_011530869.1:n.1684-1056_1684-1053dup
NM_000182.5:c.1361_1364dup (HADHA) MANE Select	NP_000173.2:p.Lys455AsnfsTer2