Canonical Allele Identifier: CA215156764
Gene: ACADSB HGNC NCBI

Linked Data

ClinVar Variation Id: 1258728
ClinVar RCV Id: RCV001671258
dbSNP Id: rs75424980
gnomAD v2: 10-124793714-C-CA
gnomAD v3: 10-123034198-C-CA
gnomAD v4: 10-123034198-C-CA
MyVariant Identifiers: chr10:g.124793714_124793715insA (hg19) chr10:g.123034198_123034199insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034200dup , CM000672.2:g.123034200dup GRCh38
NC_000010.10:g.124793716dup , CM000672.1:g.124793716dup GRCh37
NC_000010.9:g.124783706dup NCBI36
NG_008003.1:g.30288dup , LRG_451:g.30288dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.43-156dup MANE Select ENSP00000357873.3:n.43-156dup
ENST00000358776.6:c.43-156dup ENSP00000357873.3:n.43-156dup
ENST00000368869.8:c.-163-156dup ENSP00000357862.4:n.-163-156dup
ENST00000411816.2:n.60-156dup
NM_001609.3:c.43-156dup , LRG_451t1:c.43-156dup NP_001600.1:n.43-156dup
NM_001330174.1:c.-163-156dup NP_001317103.1:n.-163-156dup
NM_001330174.2:c.-163-156dup NP_001317103.1:n.-163-156dup
NM_001609.4:c.43-156dup MANE Select NP_001600.1:n.43-156dup
NM_001330174.3:c.-163-156dup NP_001317103.1:n.-163-156dup
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