Canonical Allele Identifier: CA2586968827

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191531_26191532del , CM000664.2:g.26191531_26191532del	GRCh38
NC_000002.11:g.26414400_26414401del , CM000664.1:g.26414400_26414401del	GRCh37
NC_000002.10:g.26267904_26267905del	NCBI36
NG_007121.1:g.58090_58091del
NG_007121.2:g.58091_58092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2098_2099del (HADHA) MANE Select	ENSP00000370023.3:p.Gly700ArgfsTer?
ENST00000492433.2:c.2098_2099del (HADHA)	ENSP00000438039.2:p.Gly700ArgfsTer?
ENST00000643057.1:c.*1989_*1990del (HADHA)	ENSP00000493761.1:n.*1989_*1990del
ENST00000643063.1:c.*1144_*1145del (HADHA)	ENSP00000495353.1:n.*1144_*1145del
ENST00000643233.1:c.*1989_*1990del (HADHA)	ENSP00000493880.1:n.*1989_*1990del
ENST00000644428.1:c.*722_*723del (HADHA)	ENSP00000495560.1:n.*722_*723del
ENST00000645274.1:c.1993_1994del (HADHA)	ENSP00000493996.1:p.Gly665ArgfsTer?
ENST00000646031.1:c.1457_1458del (HADHA)
ENST00000646483.1:c.1964_1965del (HADHA)	ENSP00000496185.1:n.1964_1965del
ENST00000380649.7:c.2098_2099del (HADHA)	ENSP00000370023.3:p.Gly700ArgfsTer?
ENST00000492433.1:c.556_557del (HADHA)	ENSP00000438039.1:p.Gly186ArgfsTer?
NM_000182.4:c.2098_2099del (HADHA)	NP_000173.2:p.Gly700ArgfsTer?
XM_011532567.1:c.1683+4216_1683+4217del (GAREM2)	XP_011530869.1:n.1683+4216_1683+4217del
XM_011532567.3:c.1683+4216_1683+4217del (GAREM2)	XP_011530869.1:n.1683+4216_1683+4217del
NM_000182.5:c.2098_2099del (HADHA) MANE Select	NP_000173.2:p.Gly700ArgfsTer?