Canonical Allele Identifier: CA1239701207

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192234_26192235delinsAT , CM000664.2:g.26192234_26192235delinsAT	GRCh38
NC_000002.11:g.26415103_26415104delinsAT , CM000664.1:g.26415103_26415104delinsAT	GRCh37
NC_000002.10:g.26268607_26268608delinsAT	NCBI36
NG_007121.1:g.57386_57387delinsAT
NG_007121.2:g.57387_57388delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2000+75_2000+76delinsAT (HADHA) MANE Select	ENSP00000370023.3:n.2000+75_2000+76delinsAT
ENST00000492433.2:c.2000+75_2000+76delinsAT (HADHA)	ENSP00000438039.2:n.2000+75_2000+76delinsAT
ENST00000643057.1:c.*1891+75_*1891+76delinsAT (HADHA)	ENSP00000493761.1:n.*1891+75_*1891+76delinsAT
ENST00000643063.1:c.*1046+75_*1046+76delinsAT (HADHA)	ENSP00000495353.1:n.*1046+75_*1046+76delinsAT
ENST00000643233.1:c.*1891+75_*1891+76delinsAT (HADHA)	ENSP00000493880.1:n.*1891+75_*1891+76delinsAT
ENST00000644428.1:c.*624+75_*624+76delinsAT (HADHA)	ENSP00000495560.1:n.*624+75_*624+76delinsAT
ENST00000645274.1:c.1895+75_1895+76delinsAT (HADHA)	ENSP00000493996.1:n.1895+75_1895+76delinsAT
ENST00000646031.1:c.1359+75_1359+76delinsAT (HADHA)
ENST00000646483.1:c.1866+75_1866+76delinsAT (HADHA)	ENSP00000496185.1:n.1866+75_1866+76delinsAT
ENST00000380649.7:c.2000+75_2000+76delinsAT (HADHA)	ENSP00000370023.3:n.2000+75_2000+76delinsAT
ENST00000492433.1:c.458+75_458+76delinsAT (HADHA)	ENSP00000438039.1:n.458+75_458+76delinsAT
NM_000182.4:c.2000+75_2000+76delinsAT (HADHA)	NP_000173.2:n.2000+75_2000+76delinsAT
XM_011532567.1:c.1683+4919_1683+4920delinsAT (GAREM2)	XP_011530869.1:n.1683+4919_1683+4920delinsAT
XM_011532567.3:c.1683+4919_1683+4920delinsAT (GAREM2)	XP_011530869.1:n.1683+4919_1683+4920delinsAT
NM_000182.5:c.2000+75_2000+76delinsAT (HADHA) MANE Select	NP_000173.2:n.2000+75_2000+76delinsAT