Canonical Allele Identifier: CA5730613

Gene: ACADSB

Linked Data

• dbSNP Id: rs775142654
• ExAC: 10:124793898 GTCT / G
• gnomAD v2: 10-124793898-GTCT-G
• gnomAD v3: 10-123034382-GTCT-G
• gnomAD v4: 10-123034382-GTCT-G
• MyVariant Identifiers: chr10:g.124793899_124793901del (hg19) ; chr10:g.123034383_123034385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123034387_123034389del , CM000672.2:g.123034387_123034389del	GRCh38
NC_000010.10:g.124793903_124793905del , CM000672.1:g.124793903_124793905del	GRCh37
NC_000010.9:g.124783893_124783895del	NCBI36
NG_008003.1:g.30475_30477del , LRG_451:g.30475_30477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358776.7:c.74_76del MANE Select	ENSP00000357873.3:p.Ser25del
ENST00000358776.6:c.74_76del	ENSP00000357873.3:p.Ser25del
ENST00000368869.8:c.-132_-130del	ENSP00000357862.4:n.-132_-130del
ENST00000411816.2:n.91_93del
NM_001609.3:c.74_76del , LRG_451t1:c.74_76del	NP_001600.1:p.Ser25del
NM_001330174.1:c.-132_-130del	NP_001317103.1:n.-132_-130del
NM_001330174.2:c.-132_-130del	NP_001317103.1:n.-132_-130del
NM_001609.4:c.74_76del MANE Select	NP_001600.1:p.Ser25del
NM_001330174.3:c.-132_-130del	NP_001317103.1:n.-132_-130del