Canonical Allele Identifier: CA1239701199

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192219_26192222delinsTAAA , CM000664.2:g.26192219_26192222delinsTAAA	GRCh38
NC_000002.11:g.26415088_26415091delinsTAAA , CM000664.1:g.26415088_26415091delinsTAAA	GRCh37
NC_000002.10:g.26268592_26268595delinsTAAA	NCBI36
NG_007121.1:g.57399_57402delinsTTTA
NG_007121.2:g.57400_57403delinsTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2000+88_2000+91delinsTTTA (HADHA) MANE Select	ENSP00000370023.3:n.2000+88_2000+91delinsTTTA
ENST00000492433.2:c.2000+88_2000+91delinsTTTA (HADHA)	ENSP00000438039.2:n.2000+88_2000+91delinsTTTA
ENST00000643057.1:c.*1891+88_*1891+91delinsTTTA (HADHA)	ENSP00000493761.1:n.*1891+88_*1891+91delinsTTTA
ENST00000643063.1:c.*1046+88_*1046+91delinsTTTA (HADHA)	ENSP00000495353.1:n.*1046+88_*1046+91delinsTTTA
ENST00000643233.1:c.*1891+88_*1891+91delinsTTTA (HADHA)	ENSP00000493880.1:n.*1891+88_*1891+91delinsTTTA
ENST00000644428.1:c.*624+88_*624+91delinsTTTA (HADHA)	ENSP00000495560.1:n.*624+88_*624+91delinsTTTA
ENST00000645274.1:c.1895+88_1895+91delinsTTTA (HADHA)	ENSP00000493996.1:n.1895+88_1895+91delinsTTTA
ENST00000646031.1:c.1359+88_1359+91delinsTTTA (HADHA)
ENST00000646483.1:c.1866+88_1866+91delinsTTTA (HADHA)	ENSP00000496185.1:n.1866+88_1866+91delinsTTTA
ENST00000380649.7:c.2000+88_2000+91delinsTTTA (HADHA)	ENSP00000370023.3:n.2000+88_2000+91delinsTTTA
ENST00000492433.1:c.458+88_458+91delinsTTTA (HADHA)	ENSP00000438039.1:n.458+88_458+91delinsTTTA
NM_000182.4:c.2000+88_2000+91delinsTTTA (HADHA)	NP_000173.2:n.2000+88_2000+91delinsTTTA
XM_011532567.1:c.1683+4904_1683+4907delinsTAAA (GAREM2)	XP_011530869.1:n.1683+4904_1683+4907delinsTAAA
XM_011532567.3:c.1683+4904_1683+4907delinsTAAA (GAREM2)	XP_011530869.1:n.1683+4904_1683+4907delinsTAAA
NM_000182.5:c.2000+88_2000+91delinsTTTA (HADHA) MANE Select	NP_000173.2:n.2000+88_2000+91delinsTTTA