Canonical Allele Identifier: CA1239706371

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204040_26204044delinsCAAAG , CM000664.2:g.26204040_26204044delinsCAAAG	GRCh38
NC_000002.11:g.26426909_26426913delinsCAAAG , CM000664.1:g.26426909_26426913delinsCAAAG	GRCh37
NC_000002.10:g.26280413_26280417delinsCAAAG	NCBI36
NG_007121.1:g.45577_45581delinsCTTTG
NG_007121.2:g.45578_45582delinsCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+18_1220+22delinsCTTTG MANE Select	ENSP00000370023.3:n.1220+18_1220+22delinsCTTTG
ENST00000492433.2:c.1220+18_1220+22delinsCTTTG	ENSP00000438039.2:n.1220+18_1220+22delinsCTTTG
ENST00000643057.1:c.*1111+18_*1111+22delinsCTTTG	ENSP00000493761.1:n.*1111+18_*1111+22delinsCTTTG
ENST00000643063.1:c.*266+18_*266+22delinsCTTTG	ENSP00000495353.1:n.*266+18_*266+22delinsCTTTG
ENST00000643233.1:c.*1111+18_*1111+22delinsCTTTG	ENSP00000493880.1:n.*1111+18_*1111+22delinsCTTTG
ENST00000644428.1:c.1220+18_1220+22delinsCTTTG	ENSP00000495560.1:n.1220+18_1220+22delinsCTTTG
ENST00000645274.1:c.1115+18_1115+22delinsCTTTG	ENSP00000493996.1:n.1115+18_1115+22delinsCTTTG
ENST00000646031.1:c.579+18_579+22delinsCTTTG
ENST00000646483.1:c.1086+18_1086+22delinsCTTTG	ENSP00000496185.1:n.1086+18_1086+22delinsCTTTG
ENST00000380649.7:c.1220+18_1220+22delinsCTTTG	ENSP00000370023.3:n.1220+18_1220+22delinsCTTTG
NM_000182.4:c.1220+18_1220+22delinsCTTTG	NP_000173.2:n.1220+18_1220+22delinsCTTTG
NM_000182.5:c.1220+18_1220+22delinsCTTTG MANE Select	NP_000173.2:n.1220+18_1220+22delinsCTTTG