Canonical Allele Identifier: CA1239700717

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191202_26191203delinsGC , CM000664.2:g.26191202_26191203delinsGC	GRCh38
NC_000002.11:g.26414071_26414072delinsGC , CM000664.1:g.26414071_26414072delinsGC	GRCh37
NC_000002.10:g.26267575_26267576delinsGC	NCBI36
NG_007121.1:g.58418_58419delinsGC
NG_007121.2:g.58419_58420delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*47_*48delinsGC (HADHA) MANE Select	ENSP00000370023.3:n.*47_*48delinsGC
ENST00000492433.2:c.*47_*48delinsGC (HADHA)	ENSP00000438039.2:n.*47_*48delinsGC
ENST00000643057.1:c.*2317_*2318delinsGC (HADHA)	ENSP00000493761.1:n.*2317_*2318delinsGC
ENST00000643063.1:c.*1385_*1386delinsGC (HADHA)	ENSP00000495353.1:n.*1385_*1386delinsGC
ENST00000643233.1:c.*2230_*2231delinsGC (HADHA)	ENSP00000493880.1:n.*2230_*2231delinsGC
ENST00000644428.1:c.*963_*964delinsGC (HADHA)	ENSP00000495560.1:n.*963_*964delinsGC
ENST00000645274.1:c.*47_*48delinsGC (HADHA)	ENSP00000493996.1:n.*47_*48delinsGC
ENST00000646031.1:c.1698_1699delinsGC (HADHA)
ENST00000380649.7:c.*47_*48delinsGC (HADHA)	ENSP00000370023.3:n.*47_*48delinsGC
NM_000182.4:c.*47_*48delinsGC (HADHA)	NP_000173.2:n.*47_*48delinsGC
XM_011532567.1:c.1683+3887_1683+3888delinsGC (GAREM2)	XP_011530869.1:n.1683+3887_1683+3888delinsGC
XM_011532567.3:c.1683+3887_1683+3888delinsGC (GAREM2)	XP_011530869.1:n.1683+3887_1683+3888delinsGC
NM_000182.5:c.*47_*48delinsGC (HADHA) MANE Select	NP_000173.2:n.*47_*48delinsGC