Canonical Allele Identifier: CA1139665155
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932831
ClinVar RCV Id: RCV001200785
dbSNP Id: rs2071371983
ERepo: CA1139665155/MONDO:0008723/021
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224322_7224323del , CM000679.2:g.7224322_7224323del GRCh38
NC_000017.10:g.7127641_7127642del , CM000679.1:g.7127641_7127642del GRCh37
NC_000017.9:g.7068365_7068366del NCBI36
NG_007975.1:g.9489_9490del
NG_008391.2:g.729_730del
NG_033038.1:g.15223_15224del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1534_1535del MANE Select ENSP00000349297.5:p.Arg512GlyfsTer?
ENST00000322910.9:c.*1489_*1490del ENSP00000325395.5:n.*1489_*1490del
ENST00000350303.9:c.1468_1469del ENSP00000344152.5:p.Arg490GlyfsTer?
ENST00000356839.9:c.1534_1535del ENSP00000349297.5:p.Arg512GlyfsTer?
ENST00000542255.6:c.392_393del
ENST00000543245.6:c.1603_1604del ENSP00000438689.2:p.Arg535GlyfsTer?
ENST00000578319.5:n.29_30del
ENST00000578711.1:n.818_819del
ENST00000578809.5:n.106_107del
ENST00000579391.1:n.142_143del
ENST00000579425.5:n.650_651del
ENST00000579546.1:c.273_274del
ENST00000579894.5:n.321_322del
ENST00000582450.1:n.42_43del
ENST00000583074.5:n.155_156del
ENST00000583850.5:n.309_310del
ENST00000583858.5:c.465_466del
ENST00000585203.6:n.725_726del
NM_000018.3:c.1534_1535del NP_000009.1:p.Arg512GlyfsTer?
NM_001033859.2:c.1468_1469del NP_001029031.1:p.Arg490GlyfsTer?
NM_001270447.1:c.1603_1604del NP_001257376.1:p.Arg535GlyfsTer?
NM_001270448.1:c.1306_1307del NP_001257377.1:p.Arg436GlyfsTer?
XM_006721516.2:c.1534_1535del XP_006721579.2:p.Arg512GlyfsTer?
XM_011523829.1:c.1436_1437del XP_011522131.1:p.Ala479GlyfsTer8
XM_011523830.1:c.1436_1437del XP_011522132.1:p.Ala479GlyfsTer8
XR_934021.1:n.1641_1642del
XR_934022.1:n.1543_1544del
XR_934023.1:n.1543_1544del
XM_006721516.3:c.1534_1535del XP_006721579.2:p.Arg512GlyfsTer?
XM_011523829.2:c.1436_1437del XP_011522131.1:p.Ala479GlyfsTer8
XM_011523830.2:c.1436_1437del XP_011522132.1:p.Ala479GlyfsTer8
XM_024450741.1:c.1436_1437del XP_024306509.1:p.Ala479GlyfsTer8
XR_934021.2:n.1593_1594del
XR_934022.2:n.1495_1496del
XR_934023.2:n.1495_1496del
NM_000018.4:c.1534_1535del MANE Select NP_000009.1:p.Arg512GlyfsTer?
NM_001033859.3:c.1468_1469del NP_001029031.1:p.Arg490GlyfsTer?
NM_001270447.2:c.1603_1604del NP_001257376.1:p.Arg535GlyfsTer?
NM_001270448.2:c.1306_1307del NP_001257377.1:p.Arg436GlyfsTer?
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