Canonical Allele Identifier: CA1239701356

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192558_26192560delinsGGA , CM000664.2:g.26192558_26192560delinsGGA	GRCh38
NC_000002.11:g.26415427_26415429delinsGGA , CM000664.1:g.26415427_26415429delinsGGA	GRCh37
NC_000002.10:g.26268931_26268933delinsGGA	NCBI36
NG_007121.1:g.57061_57063delinsTCC
NG_007121.2:g.57062_57064delinsTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1886-136_1886-134delinsTCC (HADHA) MANE Select	ENSP00000370023.3:n.1886-136_1886-134delinsTCC
ENST00000492433.2:c.1886-136_1886-134delinsTCC (HADHA)	ENSP00000438039.2:n.1886-136_1886-134delinsTCC
ENST00000643057.1:c.*1777-136_*1777-134delinsTCC (HADHA)	ENSP00000493761.1:n.*1777-136_*1777-134delinsTCC
ENST00000643063.1:c.*932-136_*932-134delinsTCC (HADHA)	ENSP00000495353.1:n.*932-136_*932-134delinsTCC
ENST00000643233.1:c.*1777-136_*1777-134delinsTCC (HADHA)	ENSP00000493880.1:n.*1777-136_*1777-134delinsTCC
ENST00000644428.1:c.*510-136_*510-134delinsTCC (HADHA)	ENSP00000495560.1:n.*510-136_*510-134delinsTCC
ENST00000645274.1:c.1781-136_1781-134delinsTCC (HADHA)	ENSP00000493996.1:n.1781-136_1781-134delinsTCC
ENST00000646031.1:c.1245-136_1245-134delinsTCC (HADHA)
ENST00000646483.1:c.1752-136_1752-134delinsTCC (HADHA)	ENSP00000496185.1:n.1752-136_1752-134delinsTCC
ENST00000380649.7:c.1886-136_1886-134delinsTCC (HADHA)	ENSP00000370023.3:n.1886-136_1886-134delinsTCC
ENST00000492433.1:c.344-136_344-134delinsTCC (HADHA)	ENSP00000438039.1:n.344-136_344-134delinsTCC
NM_000182.4:c.1886-136_1886-134delinsTCC (HADHA)	NP_000173.2:n.1886-136_1886-134delinsTCC
XM_011532567.1:c.1683+5243_1683+5245delinsGGA (GAREM2)	XP_011530869.1:n.1683+5243_1683+5245delinsGGA
XM_011532567.3:c.1683+5243_1683+5245delinsGGA (GAREM2)	XP_011530869.1:n.1683+5243_1683+5245delinsGGA
NM_000182.5:c.1886-136_1886-134delinsTCC (HADHA) MANE Select	NP_000173.2:n.1886-136_1886-134delinsTCC