Canonical Allele Identifier: CA1239701283

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192392_26192395delinsGATA , CM000664.2:g.26192392_26192395delinsGATA	GRCh38
NC_000002.11:g.26415261_26415264delinsGATA , CM000664.1:g.26415261_26415264delinsGATA	GRCh37
NC_000002.10:g.26268765_26268768delinsGATA	NCBI36
NG_007121.1:g.57226_57229delinsTATC
NG_007121.2:g.57227_57230delinsTATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1915_1918delinsTATC (HADHA) MANE Select	ENSP00000370023.3:p.Tyr639=
ENST00000492433.2:c.1915_1918delinsTATC (HADHA)	ENSP00000438039.2:p.Tyr639=
ENST00000643057.1:c.*1806_*1809delinsTATC (HADHA)	ENSP00000493761.1:n.*1806_*1809delinsTATC...
ENST00000643063.1:c.*961_*964delinsTATC (HADHA)	ENSP00000495353.1:n.*961_*964delinsTATC
ENST00000643233.1:c.*1806_*1809delinsTATC (HADHA)	ENSP00000493880.1:n.*1806_*1809delinsTATC...
ENST00000644428.1:c.*539_*542delinsTATC (HADHA)	ENSP00000495560.1:n.*539_*542delinsTATC
ENST00000645274.1:c.1810_1813delinsTATC (HADHA)	ENSP00000493996.1:p.Tyr604=
ENST00000646031.1:c.1274_1277delinsTATC (HADHA)
ENST00000646483.1:c.1781_1784delinsTATC (HADHA)	ENSP00000496185.1:n.1781_1784delinsTATC
ENST00000380649.7:c.1915_1918delinsTATC (HADHA)	ENSP00000370023.3:p.Tyr639=
ENST00000492433.1:c.373_376delinsTATC (HADHA)	ENSP00000438039.1:p.Tyr125=
NM_000182.4:c.1915_1918delinsTATC (HADHA)	NP_000173.2:p.Tyr639=
XM_011532567.1:c.1683+5077_1683+5080delinsGATA (GAREM2)	XP_011530869.1:n.1683+5077_1683+5080delin...
XM_011532567.3:c.1683+5077_1683+5080delinsGATA (GAREM2)	XP_011530869.1:n.1683+5077_1683+5080delin...
NM_000182.5:c.1915_1918delinsTATC (HADHA) MANE Select	NP_000173.2:p.Tyr639=