Canonical Allele Identifier: CA1239705355

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201606_26201608delinsCTT , CM000664.2:g.26201606_26201608delinsCTT	GRCh38
NC_000002.11:g.26424475_26424477delinsCTT , CM000664.1:g.26424475_26424477delinsCTT	GRCh37
NC_000002.10:g.26277979_26277981delinsCTT	NCBI36
NG_007121.1:g.48013_48015delinsAAG
NG_007121.2:g.48014_48016delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1221-288_1221-286delinsAAG (HADHA) MANE Select	ENSP00000370023.3:n.1221-288_1221-286delinsAAG
ENST00000492433.2:c.1221-288_1221-286delinsAAG (HADHA)	ENSP00000438039.2:n.1221-288_1221-286delinsAAG
ENST00000643057.1:c.*1112-288_*1112-286delinsAAG (HADHA)	ENSP00000493761.1:n.*1112-288_*1112-286delinsAAG
ENST00000643063.1:c.*267-288_*267-286delinsAAG (HADHA)	ENSP00000495353.1:n.*267-288_*267-286delinsAAG
ENST00000643233.1:c.*1112-288_*1112-286delinsAAG (HADHA)	ENSP00000493880.1:n.*1112-288_*1112-286delinsAAG
ENST00000644428.1:c.1221-288_1221-286delinsAAG (HADHA)	ENSP00000495560.1:n.1221-288_1221-286delinsAAG
ENST00000645274.1:c.1116-288_1116-286delinsAAG (HADHA)	ENSP00000493996.1:n.1116-288_1116-286delinsAAG
ENST00000646031.1:c.580-288_580-286delinsAAG (HADHA)
ENST00000646483.1:c.1087-288_1087-286delinsAAG (HADHA)	ENSP00000496185.1:n.1087-288_1087-286delinsAAG
ENST00000380649.7:c.1221-288_1221-286delinsAAG (HADHA)	ENSP00000370023.3:n.1221-288_1221-286delinsAAG
NM_000182.4:c.1221-288_1221-286delinsAAG (HADHA)	NP_000173.2:n.1221-288_1221-286delinsAAG
XM_011532567.1:c.1684-627_1684-625delinsCTT (GAREM2)	XP_011530869.1:n.1684-627_1684-625delinsCTT
XM_011532567.3:c.1684-627_1684-625delinsCTT (GAREM2)	XP_011530869.1:n.1684-627_1684-625delinsCTT
NM_000182.5:c.1221-288_1221-286delinsAAG (HADHA) MANE Select	NP_000173.2:n.1221-288_1221-286delinsAAG