Canonical Allele Identifier: CA397723118
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932736
ClinVar RCV Id: RCV001200674
dbSNP Id: rs1337636757

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221601dup , CM000679.2:g.7221601dup GRCh38
NC_000017.10:g.7124920dup , CM000679.1:g.7124920dup GRCh37
NC_000017.9:g.7065644dup NCBI36
NG_007975.1:g.6768dup
NG_008391.2:g.3452dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.541dup MANE Select ENSP00000349297.5:p.His181ProfsTer?
ENST00000322910.9:c.*496dup ENSP00000325395.5:n.*496dup
ENST00000350303.9:c.475dup ENSP00000344152.5:p.His159ProfsTer?
ENST00000356839.9:c.541dup ENSP00000349297.5:p.His181ProfsTer?
ENST00000543245.6:c.610dup ENSP00000438689.2:p.His204ProfsTer?
ENST00000577191.5:n.618dup
ENST00000577433.5:n.749dup
ENST00000577857.5:n.357dup
ENST00000579286.5:n.722dup
ENST00000579886.2:c.379dup ENSP00000463246.1:p.His127ProfsTer?
ENST00000580365.1:n.272dup
ENST00000581378.5:c.259dup
ENST00000581562.5:n.525-351dup
ENST00000582166.1:n.522dup
ENST00000583312.5:c.541dup ENSP00000467920.1:p.His181ProfsTer?
ENST00000583760.1:n.323dup
NM_000018.3:c.541dup NP_000009.1:p.His181ProfsTer?
NM_001033859.2:c.475dup NP_001029031.1:p.His159ProfsTer?
NM_001270447.1:c.610dup NP_001257376.1:p.His204ProfsTer?
NM_001270448.1:c.313dup NP_001257377.1:p.His105ProfsTer?
XM_006721516.2:c.541dup XP_006721579.2:p.His181ProfsTer?
XM_011523829.1:c.541dup XP_011522131.1:p.His181ProfsTer?
XM_011523830.1:c.541dup XP_011522132.1:p.His181ProfsTer?
XR_934021.1:n.648dup
XR_934022.1:n.648dup
XR_934023.1:n.648dup
XM_006721516.3:c.541dup XP_006721579.2:p.His181ProfsTer?
XM_011523829.2:c.541dup XP_011522131.1:p.His181ProfsTer?
XM_011523830.2:c.541dup XP_011522132.1:p.His181ProfsTer?
XM_024450741.1:c.541dup XP_024306509.1:p.His181ProfsTer?
XR_934021.2:n.600dup
XR_934022.2:n.600dup
XR_934023.2:n.600dup
NM_000018.4:c.541dup MANE Select NP_000009.1:p.His181ProfsTer?
NM_001033859.3:c.475dup NP_001029031.1:p.His159ProfsTer?
NM_001270447.2:c.610dup NP_001257376.1:p.His204ProfsTer?
NM_001270448.2:c.313dup NP_001257377.1:p.His105ProfsTer?