Canonical Allele Identifier: CA1239706372

Gene: HADHA

Linked Data

• dbSNP Id: rs1669916051
• gnomAD v4: 2-26204040-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204042_26204043del , CM000664.2:g.26204042_26204043del	GRCh38
NC_000002.11:g.26426911_26426912del , CM000664.1:g.26426911_26426912del	GRCh37
NC_000002.10:g.26280415_26280416del	NCBI36
NG_007121.1:g.45579_45580del
NG_007121.2:g.45580_45581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+20_1220+21del MANE Select	ENSP00000370023.3:n.1220+20_1220+21del
ENST00000492433.2:c.1220+20_1220+21del	ENSP00000438039.2:n.1220+20_1220+21del
ENST00000643057.1:c.*1111+20_*1111+21del	ENSP00000493761.1:n.*1111+20_*1111+21del
ENST00000643063.1:c.*266+20_*266+21del	ENSP00000495353.1:n.*266+20_*266+21del
ENST00000643233.1:c.*1111+20_*1111+21del	ENSP00000493880.1:n.*1111+20_*1111+21del
ENST00000644428.1:c.1220+20_1220+21del	ENSP00000495560.1:n.1220+20_1220+21del
ENST00000645274.1:c.1115+20_1115+21del	ENSP00000493996.1:n.1115+20_1115+21del
ENST00000646031.1:c.579+20_579+21del
ENST00000646483.1:c.1086+20_1086+21del	ENSP00000496185.1:n.1086+20_1086+21del
ENST00000380649.7:c.1220+20_1220+21del	ENSP00000370023.3:n.1220+20_1220+21del
NM_000182.4:c.1220+20_1220+21del	NP_000173.2:n.1220+20_1220+21del
NM_000182.5:c.1220+20_1220+21del MANE Select	NP_000173.2:n.1220+20_1220+21del