Canonical Allele Identifier: CA1239706343

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26203974_26203978delinsCAAAA , CM000664.2:g.26203974_26203978delinsCAAAA	GRCh38
NC_000002.11:g.26426843_26426847delinsCAAAA , CM000664.1:g.26426843_26426847delinsCAAAA	GRCh37
NC_000002.10:g.26280347_26280351delinsCAAAA	NCBI36
NG_007121.1:g.45643_45647delinsTTTTG
NG_007121.2:g.45644_45648delinsTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+84_1220+88delinsTTTTG MANE Select	ENSP00000370023.3:n.1220+84_1220+88delinsTTTTG
ENST00000492433.2:c.1220+84_1220+88delinsTTTTG	ENSP00000438039.2:n.1220+84_1220+88delinsTTTTG
ENST00000643057.1:c.*1111+84_*1111+88delinsTTTTG	ENSP00000493761.1:n.*1111+84_*1111+88delinsTTTTG
ENST00000643063.1:c.*266+84_*266+88delinsTTTTG	ENSP00000495353.1:n.*266+84_*266+88delinsTTTTG
ENST00000643233.1:c.*1111+84_*1111+88delinsTTTTG	ENSP00000493880.1:n.*1111+84_*1111+88delinsTTTTG
ENST00000644428.1:c.1220+84_1220+88delinsTTTTG	ENSP00000495560.1:n.1220+84_1220+88delinsTTTTG
ENST00000645274.1:c.1115+84_1115+88delinsTTTTG	ENSP00000493996.1:n.1115+84_1115+88delinsTTTTG
ENST00000646031.1:c.579+84_579+88delinsTTTTG
ENST00000646483.1:c.1086+84_1086+88delinsTTTTG	ENSP00000496185.1:n.1086+84_1086+88delinsTTTTG
ENST00000380649.7:c.1220+84_1220+88delinsTTTTG	ENSP00000370023.3:n.1220+84_1220+88delinsTTTTG
NM_000182.4:c.1220+84_1220+88delinsTTTTG	NP_000173.2:n.1220+84_1220+88delinsTTTTG
NM_000182.5:c.1220+84_1220+88delinsTTTTG MANE Select	NP_000173.2:n.1220+84_1220+88delinsTTTTG