Canonical Allele Identifier: CA2789793317

Gene: ACADSB

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123052945_123052946insCGGTGG , CM000672.2:g.123052945_123052946insCGGTGG	GRCh38
NC_000010.10:g.124812461_124812462insCGGTGG , CM000672.1:g.124812461_124812462insCGGTGG	GRCh37
NC_000010.9:g.124802451_124802452insCGGTGG	NCBI36
NG_008003.1:g.49033_49034insCGGTGG , LRG_451:g.49033_49034insCGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358776.7:c.1129-116_1129-115insCGGTGG MANE Select	ENSP00000357873.3:n.1129-116_1129-115insCGGTGG
ENST00000358776.6:c.1129-116_1129-115insCGGTGG	ENSP00000357873.3:n.1129-116_1129-115insCGGTGG
ENST00000368869.8:c.823-116_823-115insCGGTGG	ENSP00000357862.4:n.823-116_823-115insCGGTGG
ENST00000541070.1:n.185_186insCGGTGG
NM_001609.3:c.1129-116_1129-115insCGGTGG , LRG_451t1:c.1129-116_1129-115insCGGTGG	NP_001600.1:n.1129-116_1129-115insCGGTGG
NM_001330174.1:c.823-116_823-115insCGGTGG	NP_001317103.1:n.823-116_823-115insCGGTGG
NM_001330174.2:c.823-116_823-115insCGGTGG	NP_001317103.1:n.823-116_823-115insCGGTGG
NM_001609.4:c.1129-116_1129-115insCGGTGG MANE Select	NP_001600.1:n.1129-116_1129-115insCGGTGG
NM_001330174.3:c.823-116_823-115insCGGTGG	NP_001317103.1:n.823-116_823-115insCGGTGG