Canonical Allele Identifier: CA658795687

Gene: HADHA

Linked Data

• ClinVar Variation Id: 503510
• ClinVar RCV Id: RCV000597686 ; RCV003465349
• dbSNP Id: rs1553316142

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26238929_26238934delinsAT , CM000664.2:g.26238929_26238934delinsAT	GRCh38
NC_000002.11:g.26461797_26461802delinsAT , CM000664.1:g.26461797_26461802delinsAT	GRCh37
NC_000002.10:g.26315301_26315306delinsAT	NCBI36
NG_007121.1:g.10688_10693delinsAT
NG_007121.2:g.10688_10693delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.180_180+5delinsAT
ENST00000471743.2:n.191_191+5delinsAT
ENST00000492433.2:c.180_180+5delinsAT
ENST00000643057.1:c.*71_*71+5delinsAT
ENST00000643063.1:c.180_180+5delinsAT
ENST00000643233.1:c.*71_*71+5delinsAT
ENST00000644428.1:c.180_180+5delinsAT
ENST00000645274.1:c.180_180+5delinsAT
ENST00000646483.1:c.180_180+5delinsAT
ENST00000380649.7:c.180_180+5delinsAT
NM_000182.4:c.180_180+5delinsAT
NM_000182.5:c.180_180+5delinsAT