Canonical Allele Identifier: CA1239701277

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192384_26192390delinsACCCTCC , CM000664.2:g.26192384_26192390delinsACCCTCC	GRCh38
NC_000002.11:g.26415253_26415259delinsACCCTCC , CM000664.1:g.26415253_26415259delinsACCCTCC	GRCh37
NC_000002.10:g.26268757_26268763delinsACCCTCC	NCBI36
NG_007121.1:g.57231_57237delinsGGAGGGT
NG_007121.2:g.57232_57238delinsGGAGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1920_1926delinsGGAGGGT (HADHA) MANE Select	ENSP00000370023.3:p.Gln640=
ENST00000492433.2:c.1920_1926delinsGGAGGGT (HADHA)	ENSP00000438039.2:p.Gln640=
ENST00000643057.1:c.*1811_*1817delinsGGAGGGT (HADHA)	ENSP00000493761.1:n.*1811_*1817delinsGGAGGGT
ENST00000643063.1:c.*966_*972delinsGGAGGGT (HADHA)	ENSP00000495353.1:n.*966_*972delinsGGAGGGT
ENST00000643233.1:c.*1811_*1817delinsGGAGGGT (HADHA)	ENSP00000493880.1:n.*1811_*1817delinsGGAGGGT
ENST00000644428.1:c.*544_*550delinsGGAGGGT (HADHA)	ENSP00000495560.1:n.*544_*550delinsGGAGGGT
ENST00000645274.1:c.1815_1821delinsGGAGGGT (HADHA)	ENSP00000493996.1:p.Gln605=
ENST00000646031.1:c.1279_1285delinsGGAGGGT (HADHA)
ENST00000646483.1:c.1786_1792delinsGGAGGGT (HADHA)	ENSP00000496185.1:n.1786_1792delinsGGAGGGT
ENST00000380649.7:c.1920_1926delinsGGAGGGT (HADHA)	ENSP00000370023.3:p.Gln640=
ENST00000492433.1:c.378_384delinsGGAGGGT (HADHA)	ENSP00000438039.1:p.Gln126=
NM_000182.4:c.1920_1926delinsGGAGGGT (HADHA)	NP_000173.2:p.Gln640=
XM_011532567.1:c.1683+5069_1683+5075delinsACCCTCC (GAREM2)	XP_011530869.1:n.1683+5069_1683+5075delinsACCCTCC
XM_011532567.3:c.1683+5069_1683+5075delinsACCCTCC (GAREM2)	XP_011530869.1:n.1683+5069_1683+5075delinsACCCTCC
NM_000182.5:c.1920_1926delinsGGAGGGT (HADHA) MANE Select	NP_000173.2:p.Gln640=