Canonical Allele Identifier: CA1239701282

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192391_26192395delinsTGATA , CM000664.2:g.26192391_26192395delinsTGATA	GRCh38
NC_000002.11:g.26415260_26415264delinsTGATA , CM000664.1:g.26415260_26415264delinsTGATA	GRCh37
NC_000002.10:g.26268764_26268768delinsTGATA	NCBI36
NG_007121.1:g.57226_57230delinsTATCA
NG_007121.2:g.57227_57231delinsTATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1915_1919delinsTATCA (HADHA) MANE Select	ENSP00000370023.3:p.Tyr639=
ENST00000492433.2:c.1915_1919delinsTATCA (HADHA)	ENSP00000438039.2:p.Tyr639=
ENST00000643057.1:c.*1806_*1810delinsTATCA (HADHA)	ENSP00000493761.1:n.*1806_*1810delinsTATCA
ENST00000643063.1:c.*961_*965delinsTATCA (HADHA)	ENSP00000495353.1:n.*961_*965delinsTATCA
ENST00000643233.1:c.*1806_*1810delinsTATCA (HADHA)	ENSP00000493880.1:n.*1806_*1810delinsTATCA
ENST00000644428.1:c.*539_*543delinsTATCA (HADHA)	ENSP00000495560.1:n.*539_*543delinsTATCA
ENST00000645274.1:c.1810_1814delinsTATCA (HADHA)	ENSP00000493996.1:p.Tyr604=
ENST00000646031.1:c.1274_1278delinsTATCA (HADHA)
ENST00000646483.1:c.1781_1785delinsTATCA (HADHA)	ENSP00000496185.1:n.1781_1785delinsTATCA
ENST00000380649.7:c.1915_1919delinsTATCA (HADHA)	ENSP00000370023.3:p.Tyr639=
ENST00000492433.1:c.373_377delinsTATCA (HADHA)	ENSP00000438039.1:p.Tyr125=
NM_000182.4:c.1915_1919delinsTATCA (HADHA)	NP_000173.2:p.Tyr639=
XM_011532567.1:c.1683+5076_1683+5080delinsTGATA (GAREM2)	XP_011530869.1:n.1683+5076_1683+5080delinsTGATA
XM_011532567.3:c.1683+5076_1683+5080delinsTGATA (GAREM2)	XP_011530869.1:n.1683+5076_1683+5080delinsTGATA
NM_000182.5:c.1915_1919delinsTATCA (HADHA) MANE Select	NP_000173.2:p.Tyr639=