Canonical Allele Identifier: CA312287
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 203591
dbSNP Id: rs748077880

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223859dup , CM000679.2:g.7223859dup GRCh38
NC_000017.10:g.7127178dup , CM000679.1:g.7127178dup GRCh37
NC_000017.9:g.7067902dup NCBI36
NG_007975.1:g.9026dup
NG_008391.2:g.1197dup
NG_033038.1:g.15691dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1316dup MANE Select ENSP00000349297.5:p.Met440TyrfsTer23
ENST00000322910.9:c.*1271dup ENSP00000325395.5:n.*1271dup
ENST00000350303.9:c.1250dup ENSP00000344152.5:p.Met418TyrfsTer23
ENST00000356839.9:c.1316dup ENSP00000349297.5:p.Met440TyrfsTer23
ENST00000542255.6:c.174dup
ENST00000543245.6:c.1385dup ENSP00000438689.2:p.Met463TyrfsTer23
ENST00000578711.1:n.355dup
ENST00000579425.5:n.340dup
ENST00000579546.1:c.153dup
ENST00000583074.5:n.35dup
ENST00000583850.5:n.91dup
ENST00000583858.5:c.345dup
ENST00000585203.6:n.523+1dup
NM_000018.3:c.1316dup NP_000009.1:p.Met440TyrfsTer23
NM_001033859.2:c.1250dup NP_001029031.1:p.Met418TyrfsTer23
NM_001270447.1:c.1385dup NP_001257376.1:p.Met463TyrfsTer23
NM_001270448.1:c.1088dup NP_001257377.1:p.Met364TyrfsTer23
XM_006721516.2:c.1316dup XP_006721579.2:p.Met440TyrfsTer23
XM_011523829.1:c.1316dup XP_011522131.1:p.Met440TyrfsTer23
XM_011523830.1:c.1316dup XP_011522132.1:p.Met440TyrfsTer23
XR_934021.1:n.1423dup
XR_934022.1:n.1423dup
XR_934023.1:n.1423dup
XM_006721516.3:c.1316dup XP_006721579.2:p.Met440TyrfsTer23
XM_011523829.2:c.1316dup XP_011522131.1:p.Met440TyrfsTer23
XM_011523830.2:c.1316dup XP_011522132.1:p.Met440TyrfsTer23
XM_024450741.1:c.1316dup XP_024306509.1:p.Met440TyrfsTer23
XR_934021.2:n.1375dup
XR_934022.2:n.1375dup
XR_934023.2:n.1375dup
NM_000018.4:c.1316dup MANE Select NP_000009.1:p.Met440TyrfsTer23
NM_001033859.3:c.1250dup NP_001029031.1:p.Met418TyrfsTer23
NM_001270447.2:c.1385dup NP_001257376.1:p.Met463TyrfsTer23
NM_001270448.2:c.1088dup NP_001257377.1:p.Met364TyrfsTer23