Canonical Allele Identifier: CA2573154546
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1446281
ClinVar RCV Id: RCV001992797
dbSNP Id: rs2142976531

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221955dup , CM000679.2:g.7221955dup GRCh38
NC_000017.10:g.7125274dup , CM000679.1:g.7125274dup GRCh37
NC_000017.9:g.7065998dup NCBI36
NG_007975.1:g.7122dup
NG_008391.2:g.3096dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.626dup MANE Select ENSP00000349297.5:p.Thr210AspfsTer?
ENST00000322910.9:c.*581dup ENSP00000325395.5:n.*581dup
ENST00000350303.9:c.560dup ENSP00000344152.5:p.Thr188AspfsTer?
ENST00000356839.9:c.626dup ENSP00000349297.5:p.Thr210AspfsTer?
ENST00000543245.6:c.695dup ENSP00000438689.2:p.Thr233AspfsTer?
ENST00000577191.5:n.703dup
ENST00000577857.5:n.442dup
ENST00000579286.5:n.807dup
ENST00000579886.2:c.464dup ENSP00000463246.1:p.Glu155=
ENST00000580365.1:n.357dup
ENST00000581378.5:c.344dup
ENST00000581562.5:n.528dup
ENST00000582379.1:n.10dup
ENST00000583312.5:c.641dup ENSP00000467920.1:p.Thr215AspfsTer?
ENST00000583760.1:n.408dup
NM_000018.3:c.626dup NP_000009.1:p.Thr210AspfsTer?
NM_001033859.2:c.560dup NP_001029031.1:p.Thr188AspfsTer?
NM_001270447.1:c.695dup NP_001257376.1:p.Thr233AspfsTer?
NM_001270448.1:c.398dup NP_001257377.1:p.Thr134AspfsTer?
XM_006721516.2:c.626dup XP_006721579.2:p.Thr210AspfsTer?
XM_011523829.1:c.626dup XP_011522131.1:p.Thr210AspfsTer?
XM_011523830.1:c.626dup XP_011522132.1:p.Thr210AspfsTer?
XR_934021.1:n.733dup
XR_934022.1:n.733dup
XR_934023.1:n.733dup
XM_006721516.3:c.626dup XP_006721579.2:p.Thr210AspfsTer?
XM_011523829.2:c.626dup XP_011522131.1:p.Thr210AspfsTer?
XM_011523830.2:c.626dup XP_011522132.1:p.Thr210AspfsTer?
XM_024450741.1:c.626dup XP_024306509.1:p.Thr210AspfsTer?
XR_934021.2:n.685dup
XR_934022.2:n.685dup
XR_934023.2:n.685dup
NM_000018.4:c.626dup MANE Select NP_000009.1:p.Thr210AspfsTer?
NM_001033859.3:c.560dup NP_001029031.1:p.Thr188AspfsTer?
NM_001270447.2:c.695dup NP_001257376.1:p.Thr233AspfsTer?
NM_001270448.2:c.398dup NP_001257377.1:p.Thr134AspfsTer?