Canonical Allele Identifier: CA2740258041

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191410_26191411del , CM000664.2:g.26191410_26191411del	GRCh38
NC_000002.11:g.26414279_26414280del , CM000664.1:g.26414279_26414280del	GRCh37
NC_000002.10:g.26267783_26267784del	NCBI36
NG_007121.1:g.58212_58213del
NG_007121.2:g.58213_58214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-14_2147-13del (HADHA) MANE Select	ENSP00000370023.3:n.2147-14_2147-13del
ENST00000492433.2:c.2220_2221del (HADHA)	ENSP00000438039.2:p.Phe741SerfsTer25
ENST00000643057.1:c.*2111_*2112del (HADHA)	ENSP00000493761.1:n.*2111_*2112del
ENST00000643063.1:c.*1193-14_*1193-13del (HADHA)	ENSP00000495353.1:n.*1193-14_*1193-13del
ENST00000643233.1:c.*2038-14_*2038-13del (HADHA)	ENSP00000493880.1:n.*2038-14_*2038-13del
ENST00000644428.1:c.*771-14_*771-13del (HADHA)	ENSP00000495560.1:n.*771-14_*771-13del
ENST00000645274.1:c.2042-14_2042-13del (HADHA)	ENSP00000493996.1:n.2042-14_2042-13del
ENST00000646031.1:c.1506-14_1506-13del (HADHA)
ENST00000646483.1:c.2013-14_2013-13del (HADHA)	ENSP00000496185.1:n.2013-14_2013-13del
ENST00000380649.7:c.2147-14_2147-13del (HADHA)	ENSP00000370023.3:n.2147-14_2147-13del
ENST00000492433.1:c.678_679del (HADHA)	ENSP00000438039.1:p.Phe227SerfsTer?
NM_000182.4:c.2147-14_2147-13del (HADHA)	NP_000173.2:n.2147-14_2147-13del
XM_011532567.1:c.1683+4095_1683+4096del (GAREM2)	XP_011530869.1:n.1683+4095_1683+4096del
XM_011532567.3:c.1683+4095_1683+4096del (GAREM2)	XP_011530869.1:n.1683+4095_1683+4096del
NM_000182.5:c.2147-14_2147-13del (HADHA) MANE Select	NP_000173.2:n.2147-14_2147-13del