Canonical Allele Identifier: CA2573154571
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1345301
ClinVar RCV Id: RCV002037186
dbSNP Id: rs2142984192
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223653_7223667dup , CM000679.2:g.7223653_7223667dup GRCh38
NC_000017.10:g.7126972_7126986dup , CM000679.1:g.7126972_7126986dup GRCh37
NC_000017.9:g.7067696_7067710dup NCBI36
NG_007975.1:g.8820_8834dup
NG_008391.2:g.1387_1401dup
NG_033038.1:g.15881_15895dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1192_1206dup MANE Select ENSP00000349297.5:p.Ala402_Asn403insTyrMetValSerAla
ENST00000322910.9:c.*1147_*1161dup ENSP00000325395.5:n.*1147_*1161dup
ENST00000350303.9:c.1126_1140dup ENSP00000344152.5:p.Ala380_Asn381insTyrMetValSerAla
ENST00000356839.9:c.1192_1206dup ENSP00000349297.5:p.Ala402_Asn403insTyrMetValSerAla
ENST00000542255.6:c.50_64dup
ENST00000543245.6:c.1261_1275dup ENSP00000438689.2:p.Ala425_Asn426insTyrMetValSerAla
ENST00000578579.2:n.363_377dup
ENST00000578711.1:n.149_163dup
ENST00000578824.5:n.608_622dup
ENST00000579425.5:n.216_230dup
ENST00000579546.1:c.29_43dup
ENST00000583858.5:c.221_235dup
ENST00000585203.6:n.400_414dup
NM_000018.3:c.1192_1206dup NP_000009.1:p.Ala402_Asn403insTyrMetValSerAla
NM_001033859.2:c.1126_1140dup NP_001029031.1:p.Ala380_Asn381insTyrMetValSerAla
NM_001270447.1:c.1261_1275dup NP_001257376.1:p.Ala425_Asn426insTyrMetValSerAla
NM_001270448.1:c.964_978dup NP_001257377.1:p.Ala326_Asn327insTyrMetValSerAla
XM_006721516.2:c.1192_1206dup XP_006721579.2:p.Ala402_Asn403insTyrMetValSerAla
XM_011523829.1:c.1192_1206dup XP_011522131.1:p.Ala402_Asn403insTyrMetValSerAla
XM_011523830.1:c.1192_1206dup XP_011522132.1:p.Ala402_Asn403insTyrMetValSerAla
XR_934021.1:n.1299_1313dup
XR_934022.1:n.1299_1313dup
XR_934023.1:n.1299_1313dup
XM_006721516.3:c.1192_1206dup XP_006721579.2:p.Ala402_Asn403insTyrMetValSerAla
XM_011523829.2:c.1192_1206dup XP_011522131.1:p.Ala402_Asn403insTyrMetValSerAla
XM_011523830.2:c.1192_1206dup XP_011522132.1:p.Ala402_Asn403insTyrMetValSerAla
XM_024450741.1:c.1192_1206dup XP_024306509.1:p.Ala402_Asn403insTyrMetValSerAla
XR_934021.2:n.1251_1265dup
XR_934022.2:n.1251_1265dup
XR_934023.2:n.1251_1265dup
NM_000018.4:c.1192_1206dup MANE Select NP_000009.1:p.Ala402_Asn403insTyrMetValSerAla
NM_001033859.3:c.1126_1140dup NP_001029031.1:p.Ala380_Asn381insTyrMetValSerAla
NM_001270447.2:c.1261_1275dup NP_001257376.1:p.Ala425_Asn426insTyrMetValSerAla
NM_001270448.2:c.964_978dup NP_001257377.1:p.Ala326_Asn327insTyrMetValSerAla
Search 100 bp 5'
Search 100 bp 3'