Canonical Allele Identifier: CA767267578

Gene: HADHA

Linked Data

• dbSNP Id: rs1380556950
• gnomAD v3: 2-26204291-TG-T
• gnomAD v4: 2-26204291-TG-T
• MyVariant Identifiers: chr2:g.26427161del (hg19) ; chr2:g.26204292del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204292del , CM000664.2:g.26204292del	GRCh38
NC_000002.11:g.26427161del , CM000664.1:g.26427161del	GRCh37
NC_000002.10:g.26280665del	NCBI36
NG_007121.1:g.45329del
NG_007121.2:g.45330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1086-96del MANE Select	ENSP00000370023.3:n.1086-96del
ENST00000492433.2:c.1086-96del	ENSP00000438039.2:n.1086-96del
ENST00000643057.1:c.*977-96del	ENSP00000493761.1:n.*977-96del
ENST00000643063.1:c.*132-96del	ENSP00000495353.1:n.*132-96del
ENST00000643233.1:c.*977-96del	ENSP00000493880.1:n.*977-96del
ENST00000644428.1:c.1086-96del	ENSP00000495560.1:n.1086-96del
ENST00000645274.1:c.981-96del	ENSP00000493996.1:n.981-96del
ENST00000646031.1:c.445-96del
ENST00000646483.1:c.952-96del	ENSP00000496185.1:n.952-96del
ENST00000380649.7:c.1086-96del	ENSP00000370023.3:n.1086-96del
NM_000182.4:c.1086-96del	NP_000173.2:n.1086-96del
NM_000182.5:c.1086-96del MANE Select	NP_000173.2:n.1086-96del