Canonical Allele Identifier: CA1239720475
Gene: HADHA HGNC NCBI

Linked Data

dbSNP Id: rs1670825455
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26238933_26238936del , CM000664.2:g.26238933_26238936del GRCh38
NC_000002.11:g.26461801_26461804del , CM000664.1:g.26461801_26461804del GRCh37
NC_000002.10:g.26315305_26315308del NCBI36
NG_007121.1:g.10686_10689del
NG_007121.2:g.10686_10689del

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.178_180+1del
ENST00000471743.2:n.189_191+1del
ENST00000492433.2:c.178_180+1del
ENST00000643057.1:c.*69_*71+1del
ENST00000643063.1:c.178_180+1del
ENST00000643233.1:c.*69_*71+1del
ENST00000644428.1:c.178_180+1del
ENST00000645274.1:c.178_180+1del
ENST00000646483.1:c.178_180+1del
ENST00000380649.7:c.178_180+1del
NM_000182.4:c.178_180+1del
NM_000182.5:c.178_180+1del
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