Canonical Allele Identifier: CA2576696784

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201298_26201301del , CM000664.2:g.26201298_26201301del	GRCh38
NC_000002.11:g.26424167_26424170del , CM000664.1:g.26424167_26424170del	GRCh37
NC_000002.10:g.26277671_26277674del	NCBI36
NG_007121.1:g.48323_48326del
NG_007121.2:g.48324_48327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1243_1246del (HADHA) MANE Select	ENSP00000370023.3:p.Lys415LeufsTer2
ENST00000492433.2:c.1243_1246del (HADHA)	ENSP00000438039.2:p.Lys415LeufsTer2
ENST00000643057.1:c.*1134_*1137del (HADHA)	ENSP00000493761.1:n.*1134_*1137del
ENST00000643063.1:c.*289_*292del (HADHA)	ENSP00000495353.1:n.*289_*292del
ENST00000643233.1:c.*1134_*1137del (HADHA)	ENSP00000493880.1:n.*1134_*1137del
ENST00000644428.1:c.1243_1246del (HADHA)	ENSP00000495560.1:p.Lys415LeufsTer2
ENST00000645274.1:c.1138_1141del (HADHA)	ENSP00000493996.1:p.Lys380LeufsTer2
ENST00000646031.1:c.602_605del (HADHA)
ENST00000646483.1:c.1109_1112del (HADHA)	ENSP00000496185.1:n.1109_1112del
ENST00000380649.7:c.1243_1246del (HADHA)	ENSP00000370023.3:p.Lys415LeufsTer2
NM_000182.4:c.1243_1246del (HADHA)	NP_000173.2:p.Lys415LeufsTer2
XM_011532567.1:c.1684-935_1684-932del (GAREM2)	XP_011530869.1:n.1684-935_1684-932del
XM_011532567.3:c.1684-935_1684-932del (GAREM2)	XP_011530869.1:n.1684-935_1684-932del
NM_000182.5:c.1243_1246del (HADHA) MANE Select	NP_000173.2:p.Lys415LeufsTer2