Canonical Allele Identifier: CA2506670279

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26203909_26203910insAAT , CM000664.2:g.26203909_26203910insAAT	GRCh38
NC_000002.11:g.26426778_26426779insAAT , CM000664.1:g.26426778_26426779insAAT	GRCh37
NC_000002.10:g.26280282_26280283insAAT	NCBI36
NG_007121.1:g.45711_45712insATT
NG_007121.2:g.45712_45713insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+152_1220+153insATT MANE Select	ENSP00000370023.3:n.1220+152_1220+153insATT
ENST00000492433.2:c.1220+152_1220+153insATT	ENSP00000438039.2:n.1220+152_1220+153insATT
ENST00000643057.1:c.*1111+152_*1111+153insATT	ENSP00000493761.1:n.*1111+152_*1111+153insATT
ENST00000643063.1:c.*266+152_*266+153insATT	ENSP00000495353.1:n.*266+152_*266+153insATT
ENST00000643233.1:c.*1111+152_*1111+153insATT	ENSP00000493880.1:n.*1111+152_*1111+153insATT
ENST00000644428.1:c.1220+152_1220+153insATT	ENSP00000495560.1:n.1220+152_1220+153insATT
ENST00000645274.1:c.1115+152_1115+153insATT	ENSP00000493996.1:n.1115+152_1115+153insATT
ENST00000646031.1:c.579+152_579+153insATT
ENST00000646483.1:c.1086+152_1086+153insATT	ENSP00000496185.1:n.1086+152_1086+153insATT
ENST00000380649.7:c.1220+152_1220+153insATT	ENSP00000370023.3:n.1220+152_1220+153insATT
NM_000182.4:c.1220+152_1220+153insATT	NP_000173.2:n.1220+152_1220+153insATT
NM_000182.5:c.1220+152_1220+153insATT MANE Select	NP_000173.2:n.1220+152_1220+153insATT