Canonical Allele Identifier: CA44357292

Gene: HADHA

Linked Data

• dbSNP Id: rs867718265
• gnomAD v3: 2-26238931-TACC-T
• gnomAD v4: 2-26238931-TACC-T
• MyVariant Identifiers: chr2:g.26461800_26461802del (hg19) ; chr2:g.26238932_26238934del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26238932_26238934del , CM000664.2:g.26238932_26238934del	GRCh38
NC_000002.11:g.26461800_26461802del , CM000664.1:g.26461800_26461802del	GRCh37
NC_000002.10:g.26315304_26315306del	NCBI36
NG_007121.1:g.10688_10690del
NG_007121.2:g.10688_10690del

Transcript Alleles

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