Canonical Allele Identifier: CA1239700825

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191420_26191423delinsTGAA , CM000664.2:g.26191420_26191423delinsTGAA	GRCh38
NC_000002.11:g.26414289_26414292delinsTGAA , CM000664.1:g.26414289_26414292delinsTGAA	GRCh37
NC_000002.10:g.26267793_26267796delinsTGAA	NCBI36
NG_007121.1:g.58198_58201delinsTTCA
NG_007121.2:g.58199_58202delinsTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-28_2147-25delinsTTCA (HADHA) MANE Select	ENSP00000370023.3:n.2147-28_2147-25delinsTTCA
ENST00000492433.2:c.2206_2209delinsTTCA (HADHA)	ENSP00000438039.2:p.Phe736=
ENST00000643057.1:c.*2097_*2100delinsTTCA (HADHA)	ENSP00000493761.1:n.*2097_*2100delinsTTCA
ENST00000643063.1:c.*1193-28_*1193-25delinsTTCA (HADHA)	ENSP00000495353.1:n.*1193-28_*1193-25delinsTTCA
ENST00000643233.1:c.*2038-28_*2038-25delinsTTCA (HADHA)	ENSP00000493880.1:n.*2038-28_*2038-25delinsTTCA
ENST00000644428.1:c.*771-28_*771-25delinsTTCA (HADHA)	ENSP00000495560.1:n.*771-28_*771-25delinsTTCA
ENST00000645274.1:c.2042-28_2042-25delinsTTCA (HADHA)	ENSP00000493996.1:n.2042-28_2042-25delinsTTCA
ENST00000646031.1:c.1506-28_1506-25delinsTTCA (HADHA)
ENST00000646483.1:c.2013-28_2013-25delinsTTCA (HADHA)	ENSP00000496185.1:n.2013-28_2013-25delinsTTCA
ENST00000380649.7:c.2147-28_2147-25delinsTTCA (HADHA)	ENSP00000370023.3:n.2147-28_2147-25delinsTTCA
ENST00000492433.1:c.664_667delinsTTCA (HADHA)	ENSP00000438039.1:p.Phe222=
NM_000182.4:c.2147-28_2147-25delinsTTCA (HADHA)	NP_000173.2:n.2147-28_2147-25delinsTTCA
XM_011532567.1:c.1683+4105_1683+4108delinsTGAA (GAREM2)	XP_011530869.1:n.1683+4105_1683+4108delinsTGAA
XM_011532567.3:c.1683+4105_1683+4108delinsTGAA (GAREM2)	XP_011530869.1:n.1683+4105_1683+4108delinsTGAA
NM_000182.5:c.2147-28_2147-25delinsTTCA (HADHA) MANE Select	NP_000173.2:n.2147-28_2147-25delinsTTCA