Canonical Allele Identifier: CA531392406

Gene: HADHA

Linked Data

• dbSNP Id: rs1287601422
• gnomAD v2: 2-26426873-CAACT-C
• gnomAD v3: 2-26204004-CAACT-C
• gnomAD v4: 2-26204004-CAACT-C
• MyVariant Identifiers: chr2:g.26426874_26426877del (hg19) ; chr2:g.26204005_26204008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204008_26204011del , CM000664.2:g.26204008_26204011del	GRCh38
NC_000002.11:g.26426877_26426880del , CM000664.1:g.26426877_26426880del	GRCh37
NC_000002.10:g.26280381_26280384del	NCBI36
NG_007121.1:g.45613_45616del
NG_007121.2:g.45614_45617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+54_1220+57del MANE Select	ENSP00000370023.3:n.1220+54_1220+57del
ENST00000492433.2:c.1220+54_1220+57del	ENSP00000438039.2:n.1220+54_1220+57del
ENST00000643057.1:c.*1111+54_*1111+57del	ENSP00000493761.1:n.*1111+54_*1111+57del
ENST00000643063.1:c.*266+54_*266+57del	ENSP00000495353.1:n.*266+54_*266+57del
ENST00000643233.1:c.*1111+54_*1111+57del	ENSP00000493880.1:n.*1111+54_*1111+57del
ENST00000644428.1:c.1220+54_1220+57del	ENSP00000495560.1:n.1220+54_1220+57del
ENST00000645274.1:c.1115+54_1115+57del	ENSP00000493996.1:n.1115+54_1115+57del
ENST00000646031.1:c.579+54_579+57del
ENST00000646483.1:c.1086+54_1086+57del	ENSP00000496185.1:n.1086+54_1086+57del
ENST00000380649.7:c.1220+54_1220+57del	ENSP00000370023.3:n.1220+54_1220+57del
NM_000182.4:c.1220+54_1220+57del	NP_000173.2:n.1220+54_1220+57del
NM_000182.5:c.1220+54_1220+57del MANE Select	NP_000173.2:n.1220+54_1220+57del