Canonical Allele Identifier: CA1239706374

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204042_26204046delinsAAGAG , CM000664.2:g.26204042_26204046delinsAAGAG	GRCh38
NC_000002.11:g.26426911_26426915delinsAAGAG , CM000664.1:g.26426911_26426915delinsAAGAG	GRCh37
NC_000002.10:g.26280415_26280419delinsAAGAG	NCBI36
NG_007121.1:g.45575_45579delinsCTCTT
NG_007121.2:g.45576_45580delinsCTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+16_1220+20delinsCTCTT MANE Select	ENSP00000370023.3:n.1220+16_1220+20delinsCTCTT
ENST00000492433.2:c.1220+16_1220+20delinsCTCTT	ENSP00000438039.2:n.1220+16_1220+20delinsCTCTT
ENST00000643057.1:c.*1111+16_*1111+20delinsCTCTT	ENSP00000493761.1:n.*1111+16_*1111+20delinsCTCTT
ENST00000643063.1:c.*266+16_*266+20delinsCTCTT	ENSP00000495353.1:n.*266+16_*266+20delinsCTCTT
ENST00000643233.1:c.*1111+16_*1111+20delinsCTCTT	ENSP00000493880.1:n.*1111+16_*1111+20delinsCTCTT
ENST00000644428.1:c.1220+16_1220+20delinsCTCTT	ENSP00000495560.1:n.1220+16_1220+20delinsCTCTT
ENST00000645274.1:c.1115+16_1115+20delinsCTCTT	ENSP00000493996.1:n.1115+16_1115+20delinsCTCTT
ENST00000646031.1:c.579+16_579+20delinsCTCTT
ENST00000646483.1:c.1086+16_1086+20delinsCTCTT	ENSP00000496185.1:n.1086+16_1086+20delinsCTCTT
ENST00000380649.7:c.1220+16_1220+20delinsCTCTT	ENSP00000370023.3:n.1220+16_1220+20delinsCTCTT
NM_000182.4:c.1220+16_1220+20delinsCTCTT	NP_000173.2:n.1220+16_1220+20delinsCTCTT
NM_000182.5:c.1220+16_1220+20delinsCTCTT MANE Select	NP_000173.2:n.1220+16_1220+20delinsCTCTT