Canonical Allele Identifier: CA2749233060

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26203985_26203986insACAACCCCCC , CM000664.2:g.26203985_26203986insACAACCCCCC	GRCh38
NC_000002.11:g.26426854_26426855insACAACCCCCC , CM000664.1:g.26426854_26426855insACAACCCCCC	GRCh37
NC_000002.10:g.26280358_26280359insACAACCCCCC	NCBI36
NG_007121.1:g.45635_45636insGGGGGGTTGT
NG_007121.2:g.45636_45637insGGGGGGTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+76_1220+77insGGGGGGTTGT MANE Select	ENSP00000370023.3:n.1220+76_1220+77insGGGGGGTTGT
ENST00000492433.2:c.1220+76_1220+77insGGGGGGTTGT	ENSP00000438039.2:n.1220+76_1220+77insGGGGGGTTGT
ENST00000643057.1:c.*1111+76_*1111+77insGGGGGGTTGT	ENSP00000493761.1:n.*1111+76_*1111+77insGGGGGGTTGT
ENST00000643063.1:c.*266+76_*266+77insGGGGGGTTGT	ENSP00000495353.1:n.*266+76_*266+77insGGGGGGTTGT
ENST00000643233.1:c.*1111+76_*1111+77insGGGGGGTTGT	ENSP00000493880.1:n.*1111+76_*1111+77insGGGGGGTTGT
ENST00000644428.1:c.1220+76_1220+77insGGGGGGTTGT	ENSP00000495560.1:n.1220+76_1220+77insGGGGGGTTGT
ENST00000645274.1:c.1115+76_1115+77insGGGGGGTTGT	ENSP00000493996.1:n.1115+76_1115+77insGGGGGGTTGT
ENST00000646031.1:c.579+76_579+77insGGGGGGTTGT
ENST00000646483.1:c.1086+76_1086+77insGGGGGGTTGT	ENSP00000496185.1:n.1086+76_1086+77insGGGGGGTTGT
ENST00000380649.7:c.1220+76_1220+77insGGGGGGTTGT	ENSP00000370023.3:n.1220+76_1220+77insGGGGGGTTGT
NM_000182.4:c.1220+76_1220+77insGGGGGGTTGT	NP_000173.2:n.1220+76_1220+77insGGGGGGTTGT
NM_000182.5:c.1220+76_1220+77insGGGGGGTTGT MANE Select	NP_000173.2:n.1220+76_1220+77insGGGGGGTTGT