Canonical Allele Identifier: CA2586968828

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192319_26192320del , CM000664.2:g.26192319_26192320del	GRCh38
NC_000002.11:g.26415188_26415189del , CM000664.1:g.26415188_26415189del	GRCh37
NC_000002.10:g.26268692_26268693del	NCBI36
NG_007121.1:g.57301_57302del
NG_007121.2:g.57302_57303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1990_1991del (HADHA) MANE Select	ENSP00000370023.3:p.Lys664ValfsTer2
ENST00000492433.2:c.1990_1991del (HADHA)	ENSP00000438039.2:p.Lys664ValfsTer2
ENST00000643057.1:c.*1881_*1882del (HADHA)	ENSP00000493761.1:n.*1881_*1882del
ENST00000643063.1:c.*1036_*1037del (HADHA)	ENSP00000495353.1:n.*1036_*1037del
ENST00000643233.1:c.*1881_*1882del (HADHA)	ENSP00000493880.1:n.*1881_*1882del
ENST00000644428.1:c.*614_*615del (HADHA)	ENSP00000495560.1:n.*614_*615del
ENST00000645274.1:c.1885_1886del (HADHA)	ENSP00000493996.1:p.Lys629ValfsTer2
ENST00000646031.1:c.1349_1350del (HADHA)
ENST00000646483.1:c.1856_1857del (HADHA)	ENSP00000496185.1:n.1856_1857del
ENST00000380649.7:c.1990_1991del (HADHA)	ENSP00000370023.3:p.Lys664ValfsTer2
ENST00000492433.1:c.448_449del (HADHA)	ENSP00000438039.1:p.Lys150ValfsTer2
NM_000182.4:c.1990_1991del (HADHA)	NP_000173.2:p.Lys664ValfsTer2
XM_011532567.1:c.1683+5004_1683+5005del (GAREM2)	XP_011530869.1:n.1683+5004_1683+5005del
XM_011532567.3:c.1683+5004_1683+5005del (GAREM2)	XP_011530869.1:n.1683+5004_1683+5005del
NM_000182.5:c.1990_1991del (HADHA) MANE Select	NP_000173.2:p.Lys664ValfsTer2