Canonical Allele Identifier: CA531392410

Gene: HADHA

Linked Data

• dbSNP Id: rs1558319492
• gnomAD v2: 2-26426900-T-TA
• gnomAD v4: 2-26204031-T-TA
• MyVariant Identifiers: chr2:g.26426900_26426901insA (hg19) ; chr2:g.26204031_26204032insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204033dup , CM000664.2:g.26204033dup	GRCh38
NC_000002.11:g.26426902dup , CM000664.1:g.26426902dup	GRCh37
NC_000002.10:g.26280406dup	NCBI36
NG_007121.1:g.45589dup
NG_007121.2:g.45590dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+30dup MANE Select	ENSP00000370023.3:n.1220+30dup
ENST00000492433.2:c.1220+30dup	ENSP00000438039.2:n.1220+30dup
ENST00000643057.1:c.*1111+30dup	ENSP00000493761.1:n.*1111+30dup
ENST00000643063.1:c.*266+30dup	ENSP00000495353.1:n.*266+30dup
ENST00000643233.1:c.*1111+30dup	ENSP00000493880.1:n.*1111+30dup
ENST00000644428.1:c.1220+30dup	ENSP00000495560.1:n.1220+30dup
ENST00000645274.1:c.1115+30dup	ENSP00000493996.1:n.1115+30dup
ENST00000646031.1:c.579+30dup
ENST00000646483.1:c.1086+30dup	ENSP00000496185.1:n.1086+30dup
ENST00000380649.7:c.1220+30dup	ENSP00000370023.3:n.1220+30dup
NM_000182.4:c.1220+30dup	NP_000173.2:n.1220+30dup
NM_000182.5:c.1220+30dup MANE Select	NP_000173.2:n.1220+30dup