Canonical Allele Identifier: CA1239702427

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26194859_26194860delinsAC , CM000664.2:g.26194859_26194860delinsAC	GRCh38
NC_000002.11:g.26417728_26417729delinsAC , CM000664.1:g.26417728_26417729delinsAC	GRCh37
NC_000002.10:g.26271232_26271233delinsAC	NCBI36
NG_007121.1:g.54761_54762delinsGT
NG_007121.2:g.54762_54763delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1621-222_1621-221delinsGT (HADHA) MANE Select	ENSP00000370023.3:n.1621-222_1621-221delinsGT
ENST00000492433.2:c.1621-222_1621-221delinsGT (HADHA)	ENSP00000438039.2:n.1621-222_1621-221delinsGT
ENST00000643057.1:c.*1512-222_*1512-221delinsGT (HADHA)	ENSP00000493761.1:n.*1512-222_*1512-221delinsGT
ENST00000643063.1:c.*667-222_*667-221delinsGT (HADHA)	ENSP00000495353.1:n.*667-222_*667-221delinsGT
ENST00000643233.1:c.*1512-222_*1512-221delinsGT (HADHA)	ENSP00000493880.1:n.*1512-222_*1512-221delinsGT
ENST00000644428.1:c.*245-222_*245-221delinsGT (HADHA)	ENSP00000495560.1:n.*245-222_*245-221delinsGT
ENST00000645274.1:c.1516-222_1516-221delinsGT (HADHA)	ENSP00000493996.1:n.1516-222_1516-221delinsGT
ENST00000646031.1:c.980-222_980-221delinsGT (HADHA)
ENST00000646483.1:c.1487-222_1487-221delinsGT (HADHA)	ENSP00000496185.1:n.1487-222_1487-221delinsGT
ENST00000380649.7:c.1621-222_1621-221delinsGT (HADHA)	ENSP00000370023.3:n.1621-222_1621-221delinsGT
ENST00000492433.1:c.79-222_79-221delinsGT (HADHA)	ENSP00000438039.1:n.79-222_79-221delinsGT
NM_000182.4:c.1621-222_1621-221delinsGT (HADHA)	NP_000173.2:n.1621-222_1621-221delinsGT
XM_011532567.1:c.1684-7374_1684-7373delinsAC (GAREM2)	XP_011530869.1:n.1684-7374_1684-7373delinsAC
XM_011532567.3:c.1684-7374_1684-7373delinsAC (GAREM2)	XP_011530869.1:n.1684-7374_1684-7373delinsAC
NM_000182.5:c.1621-222_1621-221delinsGT (HADHA) MANE Select	NP_000173.2:n.1621-222_1621-221delinsGT