Canonical Allele Identifier: CA244494995
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs979058757
gnomAD v3: 12-120738978-T-TG
gnomAD v4: 12-120738978-T-TG
MyVariant Identifiers: chr12:g.121176781_121176782insG (hg19) chr12:g.120738978_120738979insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738982dup , CM000674.2:g.120738982dup GRCh38
NC_000012.11:g.121176785dup , CM000674.1:g.121176785dup GRCh37
NC_000012.10:g.119661168dup NCBI36
NG_007991.1:g.18215dup

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1029+67dup MANE Select ENSP00000242592.4:n.1029+67dup
ENST00000242592.8:c.1029+67dup ENSP00000242592.4:n.1029+67dup
ENST00000411593.2:c.1017+67dup ENSP00000401045.2:n.1017+67dup
NM_000017.3:c.1029+67dup NP_000008.1:n.1029+67dup
NM_001302554.1:c.1017+67dup NP_001289483.1:n.1017+67dup
NM_000017.4:c.1029+67dup MANE Select NP_000008.1:n.1029+67dup
NM_001302554.2:c.1017+67dup NP_001289483.1:n.1017+67dup
Search 100 bp 5'
Search 100 bp 3'