Canonical Allele Identifier: CA2580094836
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2200692
ClinVar RCV Id: RCV002654798
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224398_7224399delinsAC , CM000679.2:g.7224398_7224399delinsAC GRCh38
NC_000017.10:g.7127717_7127718delinsAC , CM000679.1:g.7127717_7127718delinsAC GRCh37
NC_000017.9:g.7068441_7068442delinsAC NCBI36
NG_007975.1:g.9565_9566delinsAC
NG_008391.2:g.652_653delinsGT
NG_033038.1:g.15146_15147delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1605+5_1605+6delinsAC MANE Select ENSP00000349297.5:n.1605+5_1605+6delinsAC
ENST00000322910.9:c.*1560+5_*1560+6delinsAC ENSP00000325395.5:n.*1560+5_*1560+6delinsAC
ENST00000350303.9:c.1539+5_1539+6delinsAC ENSP00000344152.5:n.1539+5_1539+6delinsAC
ENST00000356839.9:c.1605+5_1605+6delinsAC ENSP00000349297.5:n.1605+5_1605+6delinsAC
ENST00000542255.6:c.463+5_463+6delinsAC
ENST00000543245.6:c.1674+5_1674+6delinsAC ENSP00000438689.2:n.1674+5_1674+6delinsAC
ENST00000578319.5:n.105_106delinsAC
ENST00000578711.1:n.894_895delinsAC
ENST00000578809.5:n.177+5_177+6delinsAC
ENST00000579391.1:n.213+5_213+6delinsAC
ENST00000579425.5:n.721+5_721+6delinsAC
ENST00000579546.1:c.344+5_344+6delinsAC
ENST00000579894.5:n.392+5_392+6delinsAC
ENST00000582450.1:n.113+5_113+6delinsAC
ENST00000583074.5:n.226+5_226+6delinsAC
ENST00000583850.5:n.380+5_380+6delinsAC
ENST00000583858.5:c.536+5_536+6delinsAC
ENST00000585203.6:n.796+5_796+6delinsAC
NM_000018.3:c.1605+5_1605+6delinsAC NP_000009.1:n.1605+5_1605+6delinsAC
NM_001033859.2:c.1539+5_1539+6delinsAC NP_001029031.1:n.1539+5_1539+6delinsAC
NM_001270447.1:c.1674+5_1674+6delinsAC NP_001257376.1:n.1674+5_1674+6delinsAC
NM_001270448.1:c.1377+5_1377+6delinsAC NP_001257377.1:n.1377+5_1377+6delinsAC
XM_006721516.2:c.1605+5_1605+6delinsAC XP_006721579.2:n.1605+5_1605+6delinsAC
XM_011523829.1:c.1507+5_1507+6delinsAC XP_011522131.1:n.1507+5_1507+6delinsAC
XM_011523830.1:c.1507+5_1507+6delinsAC XP_011522132.1:n.1507+5_1507+6delinsAC
XR_934021.1:n.1712+5_1712+6delinsAC
XR_934022.1:n.1614+5_1614+6delinsAC
XR_934023.1:n.1614+5_1614+6delinsAC
XM_006721516.3:c.1605+5_1605+6delinsAC XP_006721579.2:n.1605+5_1605+6delinsAC
XM_011523829.2:c.1507+5_1507+6delinsAC XP_011522131.1:n.1507+5_1507+6delinsAC
XM_011523830.2:c.1507+5_1507+6delinsAC XP_011522132.1:n.1507+5_1507+6delinsAC
XM_024450741.1:c.1512_1513delinsAC XP_024306509.1:p.Trp505Arg
XR_934021.2:n.1664+5_1664+6delinsAC
XR_934022.2:n.1566+5_1566+6delinsAC
XR_934023.2:n.1566+5_1566+6delinsAC
NM_000018.4:c.1605+5_1605+6delinsAC MANE Select NP_000009.1:n.1605+5_1605+6delinsAC
NM_001033859.3:c.1539+5_1539+6delinsAC NP_001029031.1:n.1539+5_1539+6delinsAC
NM_001270447.2:c.1674+5_1674+6delinsAC NP_001257376.1:n.1674+5_1674+6delinsAC
NM_001270448.2:c.1377+5_1377+6delinsAC NP_001257377.1:n.1377+5_1377+6delinsAC
Search 100 bp 5'
Search 100 bp 3'