Canonical Allele Identifier: CA2576696717

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195094del , CM000664.2:g.26195094del	GRCh38
NC_000002.11:g.26417963del , CM000664.1:g.26417963del	GRCh37
NC_000002.10:g.26271467del	NCBI36
NG_007121.1:g.54528del
NG_007121.2:g.54529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1619del (HADHA) MANE Select	ENSP00000370023.3:p.Lys540ArgfsTer15
ENST00000492433.2:c.1619del (HADHA)	ENSP00000438039.2:p.Lys540ArgfsTer15
ENST00000643057.1:c.*1510del (HADHA)	ENSP00000493761.1:n.*1510del
ENST00000643063.1:c.*665del (HADHA)	ENSP00000495353.1:n.*665del
ENST00000643233.1:c.*1510del (HADHA)	ENSP00000493880.1:n.*1510del
ENST00000644428.1:c.*243del (HADHA)	ENSP00000495560.1:n.*243del
ENST00000645274.1:c.1514del (HADHA)	ENSP00000493996.1:p.Lys505ArgfsTer15
ENST00000646031.1:c.978del (HADHA)
ENST00000646483.1:c.1485del (HADHA)	ENSP00000496185.1:n.1485del
ENST00000380649.7:c.1619del (HADHA)	ENSP00000370023.3:p.Lys540ArgfsTer15
ENST00000492433.1:c.77del (HADHA)	ENSP00000438039.1:p.Lys26ArgfsTer15
NM_000182.4:c.1619del (HADHA)	NP_000173.2:p.Lys540ArgfsTer15
XM_011532567.1:c.1684-7139del (GAREM2)	XP_011530869.1:n.1684-7139del
XM_011532567.3:c.1684-7139del (GAREM2)	XP_011530869.1:n.1684-7139del
NM_000182.5:c.1619del (HADHA) MANE Select	NP_000173.2:p.Lys540ArgfsTer15