Canonical Allele Identifier: CA44386080

Gene: HADHA

Linked Data

• ClinVar Variation Id: 2153217
• ClinVar RCV Id: RCV003077502
• dbSNP Id: rs997033672
• gnomAD v3: 2-26204042-AAGAG-A
• gnomAD v4: 2-26204042-AAGAG-A
• MyVariant Identifiers: chr2:g.26426912_26426915del (hg19) ; chr2:g.26204043_26204046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204049_26204052del , CM000664.2:g.26204049_26204052del	GRCh38
NC_000002.11:g.26426918_26426921del , CM000664.1:g.26426918_26426921del	GRCh37
NC_000002.10:g.26280422_26280425del	NCBI36
NG_007121.1:g.45575_45578del
NG_007121.2:g.45576_45579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+16_1220+19del MANE Select	ENSP00000370023.3:n.1220+16_1220+19del
ENST00000492433.2:c.1220+16_1220+19del	ENSP00000438039.2:n.1220+16_1220+19del
ENST00000643057.1:c.*1111+16_*1111+19del	ENSP00000493761.1:n.*1111+16_*1111+19del
ENST00000643063.1:c.*266+16_*266+19del	ENSP00000495353.1:n.*266+16_*266+19del
ENST00000643233.1:c.*1111+16_*1111+19del	ENSP00000493880.1:n.*1111+16_*1111+19del
ENST00000644428.1:c.1220+16_1220+19del	ENSP00000495560.1:n.1220+16_1220+19del
ENST00000645274.1:c.1115+16_1115+19del	ENSP00000493996.1:n.1115+16_1115+19del
ENST00000646031.1:c.579+16_579+19del
ENST00000646483.1:c.1086+16_1086+19del	ENSP00000496185.1:n.1086+16_1086+19del
ENST00000380649.7:c.1220+16_1220+19del	ENSP00000370023.3:n.1220+16_1220+19del
NM_000182.4:c.1220+16_1220+19del	NP_000173.2:n.1220+16_1220+19del
NM_000182.5:c.1220+16_1220+19del MANE Select	NP_000173.2:n.1220+16_1220+19del