Canonical Allele Identifier: CA2580066178

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1725474
• ClinVar RCV Id: RCV002309158

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195192_26195193insAAAG , CM000664.2:g.26195192_26195193insAAAG	GRCh38
NC_000002.11:g.26418061_26418062insAAAG , CM000664.1:g.26418061_26418062insAAAG	GRCh37
NC_000002.10:g.26271565_26271566insAAAG	NCBI36
NG_007121.1:g.54428_54429insCTTT
NG_007121.2:g.54429_54430insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1519_1520insCTTT (HADHA) MANE Select	ENSP00000370023.3:p.Gln507ProfsTer?
ENST00000492433.2:c.1519_1520insCTTT (HADHA)	ENSP00000438039.2:p.Gln507ProfsTer?
ENST00000643057.1:c.*1410_*1411insCTTT (HADHA)	ENSP00000493761.1:n.*1410_*1411insCTTT
ENST00000643063.1:c.*565_*566insCTTT (HADHA)	ENSP00000495353.1:n.*565_*566insCTTT
ENST00000643233.1:c.*1410_*1411insCTTT (HADHA)	ENSP00000493880.1:n.*1410_*1411insCTTT
ENST00000644428.1:c.*143_*144insCTTT (HADHA)	ENSP00000495560.1:n.*143_*144insCTTT
ENST00000645274.1:c.1414_1415insCTTT (HADHA)	ENSP00000493996.1:p.Gln472ProfsTer?
ENST00000646031.1:c.878_879insCTTT (HADHA)
ENST00000646483.1:c.1385_1386insCTTT (HADHA)	ENSP00000496185.1:n.1385_1386insCTTT
ENST00000380649.7:c.1519_1520insCTTT (HADHA)	ENSP00000370023.3:p.Gln507ProfsTer?
NM_000182.4:c.1519_1520insCTTT (HADHA)	NP_000173.2:p.Gln507ProfsTer?
XM_011532567.1:c.1684-7041_1684-7040insAAAG (GAREM2)	XP_011530869.1:n.1684-7041_1684-7040insAAAG
XM_011532567.3:c.1684-7041_1684-7040insAAAG (GAREM2)	XP_011530869.1:n.1684-7041_1684-7040insAAAG
NM_000182.5:c.1519_1520insCTTT (HADHA) MANE Select	NP_000173.2:p.Gln507ProfsTer?