Canonical Allele Identifier: CA5730608

Gene: ACADSB

Linked Data

• dbSNP Id: rs764829170
• ExAC: 10:124793891 CTTGT / C
• gnomAD v2: 10-124793891-CTTGT-C
• gnomAD v4: 10-123034375-CTTGT-C
• MyVariant Identifiers: chr10:g.124793892_124793895del (hg19) ; chr10:g.123034376_123034379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123034380_123034383del , CM000672.2:g.123034380_123034383del	GRCh38
NC_000010.10:g.124793896_124793899del , CM000672.1:g.124793896_124793899del	GRCh37
NC_000010.9:g.124783886_124783889del	NCBI36
NG_008003.1:g.30468_30471del , LRG_451:g.30468_30471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358776.7:c.67_70del MANE Select	ENSP00000357873.3:p.Ser24LeufsTer20
ENST00000358776.6:c.67_70del	ENSP00000357873.3:p.Ser24LeufsTer20
ENST00000368869.8:c.-139_-136del	ENSP00000357862.4:n.-139_-136del
ENST00000411816.2:n.84_87del
NM_001609.3:c.67_70del , LRG_451t1:c.67_70del	NP_001600.1:p.Ser24LeufsTer20
NM_001330174.1:c.-139_-136del	NP_001317103.1:n.-139_-136del
NM_001330174.2:c.-139_-136del	NP_001317103.1:n.-139_-136del
NM_001609.4:c.67_70del MANE Select	NP_001600.1:p.Ser24LeufsTer20
NM_001330174.3:c.-139_-136del	NP_001317103.1:n.-139_-136del