Canonical Allele Identifier: CA1239705269

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201391_26201392delinsGA , CM000664.2:g.26201391_26201392delinsGA	GRCh38
NC_000002.11:g.26424260_26424261delinsGA , CM000664.1:g.26424260_26424261delinsGA	GRCh37
NC_000002.10:g.26277764_26277765delinsGA	NCBI36
NG_007121.1:g.48229_48230delinsTC
NG_007121.2:g.48230_48231delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1221-72_1221-71delinsTC (HADHA) MANE Select	ENSP00000370023.3:n.1221-72_1221-71delinsTC
ENST00000492433.2:c.1221-72_1221-71delinsTC (HADHA)	ENSP00000438039.2:n.1221-72_1221-71delinsTC
ENST00000643057.1:c.*1112-72_*1112-71delinsTC (HADHA)	ENSP00000493761.1:n.*1112-72_*1112-71delinsTC
ENST00000643063.1:c.*267-72_*267-71delinsTC (HADHA)	ENSP00000495353.1:n.*267-72_*267-71delinsTC
ENST00000643233.1:c.*1112-72_*1112-71delinsTC (HADHA)	ENSP00000493880.1:n.*1112-72_*1112-71delinsTC
ENST00000644428.1:c.1221-72_1221-71delinsTC (HADHA)	ENSP00000495560.1:n.1221-72_1221-71delinsTC
ENST00000645274.1:c.1116-72_1116-71delinsTC (HADHA)	ENSP00000493996.1:n.1116-72_1116-71delinsTC
ENST00000646031.1:c.580-72_580-71delinsTC (HADHA)
ENST00000646483.1:c.1087-72_1087-71delinsTC (HADHA)	ENSP00000496185.1:n.1087-72_1087-71delinsTC
ENST00000380649.7:c.1221-72_1221-71delinsTC (HADHA)	ENSP00000370023.3:n.1221-72_1221-71delinsTC
NM_000182.4:c.1221-72_1221-71delinsTC (HADHA)	NP_000173.2:n.1221-72_1221-71delinsTC
XM_011532567.1:c.1684-842_1684-841delinsGA (GAREM2)	XP_011530869.1:n.1684-842_1684-841delinsGA
XM_011532567.3:c.1684-842_1684-841delinsGA (GAREM2)	XP_011530869.1:n.1684-842_1684-841delinsGA
NM_000182.5:c.1221-72_1221-71delinsTC (HADHA) MANE Select	NP_000173.2:n.1221-72_1221-71delinsTC