Canonical Allele Identifier: CA913013649
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224776_7224778del , CM000679.2:g.7224776_7224778del GRCh38
NC_000017.10:g.7128095_7128097del , CM000679.1:g.7128095_7128097del GRCh37
NC_000017.9:g.7068819_7068821del NCBI36
NG_007975.1:g.9943_9945del
NG_008391.2:g.273_275del
NG_033038.1:g.14767_14769del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1752-33_1752-31del MANE Select ENSP00000349297.5:n.1752-33_1752-31del
ENST00000322910.9:c.*1707-33_*1707-31del ENSP00000325395.5:n.*1707-33_*1707-31del
ENST00000350303.9:c.1686-33_1686-31del ENSP00000344152.5:n.1686-33_1686-31del
ENST00000356839.9:c.1752-33_1752-31del ENSP00000349297.5:n.1752-33_1752-31del
ENST00000542255.6:c.598_600del
ENST00000543245.6:c.1821-33_1821-31del ENSP00000438689.2:n.1821-33_1821-31del
ENST00000578033.1:n.144_146del
ENST00000578319.5:n.333-33_333-31del
ENST00000578711.1:n.1272_1274del
ENST00000578809.5:n.324-33_324-31del
ENST00000579425.5:n.868-33_868-31del
ENST00000579546.1:c.487-33_487-31del
ENST00000583074.5:n.361_363del
ENST00000583848.5:c.118-33_118-31del ENSP00000466487.1:n.118-33_118-31del
ENST00000583850.5:n.523-33_523-31del
ENST00000583858.5:c.683-33_683-31del
ENST00000585203.6:n.943-33_943-31del
NM_000018.3:c.1752-33_1752-31del NP_000009.1:n.1752-33_1752-31del
NM_001033859.2:c.1686-33_1686-31del NP_001029031.1:n.1686-33_1686-31del
NM_001270447.1:c.1821-33_1821-31del NP_001257376.1:n.1821-33_1821-31del
NM_001270448.1:c.1524-33_1524-31del NP_001257377.1:n.1524-33_1524-31del
XM_006721516.2:c.1740_1742del XP_006721579.2:p.Gln581del
XM_011523829.1:c.1638_1640del XP_011522131.1:p.Gln547del
XM_011523830.1:c.1650-33_1650-31del XP_011522132.1:n.1650-33_1650-31del
XR_934021.1:n.1855-33_1855-31del
XR_934022.1:n.1761-33_1761-31del
XR_934023.1:n.1749_1751del
XM_006721516.3:c.1740_1742del XP_006721579.2:p.Gln581del
XM_011523829.2:c.1638_1640del XP_011522131.1:p.Gln547del
XM_011523830.2:c.1650-33_1650-31del XP_011522132.1:n.1650-33_1650-31del
XM_024450741.1:c.1740-33_1740-31del XP_024306509.1:n.1740-33_1740-31del
XR_934021.2:n.1807-33_1807-31del
XR_934022.2:n.1713-33_1713-31del
XR_934023.2:n.1701_1703del
NM_000018.4:c.1752-33_1752-31del MANE Select NP_000009.1:n.1752-33_1752-31del
NM_001033859.3:c.1686-33_1686-31del NP_001029031.1:n.1686-33_1686-31del
NM_001270447.2:c.1821-33_1821-31del NP_001257376.1:n.1821-33_1821-31del
NM_001270448.2:c.1524-33_1524-31del NP_001257377.1:n.1524-33_1524-31del