Canonical Allele Identifier: CA1139665159
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932834
ClinVar RCV Id: RCV001200788
dbSNP Id: rs2071395312

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224686dup , CM000679.2:g.7224686dup GRCh38
NC_000017.10:g.7128005dup , CM000679.1:g.7128005dup GRCh37
NC_000017.9:g.7068729dup NCBI36
NG_007975.1:g.9853dup
NG_008391.2:g.366dup
NG_033038.1:g.14860dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1723dup MANE Select ENSP00000349297.5:p.Leu575ProfsTer17
ENST00000322910.9:c.*1678dup ENSP00000325395.5:n.*1678dup
ENST00000350303.9:c.1657dup ENSP00000344152.5:p.Leu553ProfsTer17
ENST00000356839.9:c.1723dup ENSP00000349297.5:p.Leu575ProfsTer17
ENST00000542255.6:c.537-29dup
ENST00000543245.6:c.1792dup ENSP00000438689.2:p.Leu598ProfsTer17
ENST00000578033.1:n.54dup
ENST00000578319.5:n.304dup
ENST00000578711.1:n.1182dup
ENST00000578809.5:n.295dup
ENST00000579425.5:n.839dup
ENST00000579546.1:c.458dup
ENST00000583074.5:n.300-29dup
ENST00000583848.5:c.89dup ENSP00000466487.1:p.Leu31SerfsTer15
ENST00000583850.5:n.494dup
ENST00000583858.5:c.654dup
ENST00000585203.6:n.914dup
NM_000018.3:c.1723dup NP_000009.1:p.Leu575ProfsTer17
NM_001033859.2:c.1657dup NP_001029031.1:p.Leu553ProfsTer17
NM_001270447.1:c.1792dup NP_001257376.1:p.Leu598ProfsTer17
NM_001270448.1:c.1495dup NP_001257377.1:p.Leu499ProfsTer17
XM_006721516.2:c.1679-29dup XP_006721579.2:n.1679-29dup
XM_011523829.1:c.1577-29dup XP_011522131.1:n.1577-29dup
XM_011523830.1:c.1621dup XP_011522132.1:p.Leu541ProfsTer17
XR_934021.1:n.1826dup
XR_934022.1:n.1732dup
XR_934023.1:n.1688-29dup
XM_006721516.3:c.1679-29dup XP_006721579.2:n.1679-29dup
XM_011523829.2:c.1577-29dup XP_011522131.1:n.1577-29dup
XM_011523830.2:c.1621dup XP_011522132.1:p.Leu541ProfsTer17
XM_024450741.1:c.1711dup XP_024306509.1:p.Leu571ProfsTer17
XR_934021.2:n.1778dup
XR_934022.2:n.1684dup
XR_934023.2:n.1640-29dup
NM_000018.4:c.1723dup MANE Select NP_000009.1:p.Leu575ProfsTer17
NM_001033859.3:c.1657dup NP_001029031.1:p.Leu553ProfsTer17
NM_001270447.2:c.1792dup NP_001257376.1:p.Leu598ProfsTer17
NM_001270448.2:c.1495dup NP_001257377.1:p.Leu499ProfsTer17