Canonical Allele Identifier: CA1941711242
Gene: ACADSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034382_123034385delinsGTCT , CM000672.2:g.123034382_123034385delinsGTCT GRCh38
NC_000010.10:g.124793898_124793901delinsGTCT , CM000672.1:g.124793898_124793901delinsGTCT GRCh37
NC_000010.9:g.124783888_124783891delinsGTCT NCBI36
NG_008003.1:g.30470_30473delinsGTCT , LRG_451:g.30470_30473delinsGTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.69_72delinsGTCT MANE Select ENSP00000357873.3:p.Leu23=
ENST00000358776.6:c.69_72delinsGTCT ENSP00000357873.3:p.Leu23=
ENST00000368869.8:c.-137_-134delinsGTCT ENSP00000357862.4:n.-137_-134delinsGTCT
ENST00000411816.2:n.86_89delinsGTCT
NM_001609.3:c.69_72delinsGTCT , LRG_451t1:c.69_72delinsGTCT NP_001600.1:p.Leu23=
NM_001330174.1:c.-137_-134delinsGTCT NP_001317103.1:n.-137_-134delinsGTCT
NM_001330174.2:c.-137_-134delinsGTCT NP_001317103.1:n.-137_-134delinsGTCT
NM_001609.4:c.69_72delinsGTCT MANE Select NP_001600.1:p.Leu23=
NM_001330174.3:c.-137_-134delinsGTCT NP_001317103.1:n.-137_-134delinsGTCT