Canonical Allele Identifier: CA2808367624
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224716_7224809del , CM000679.2:g.7224716_7224809del GRCh38
NC_000017.10:g.7128035_7128128del , CM000679.1:g.7128035_7128128del GRCh37
NC_000017.9:g.7068759_7068852del NCBI36
NG_007975.1:g.9883_9976del
NG_008391.2:g.245_338del
NG_033038.1:g.14739_14832del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1751+2_1752del
ENST00000322910.9:c.*1706+2_*1707del
ENST00000350303.9:c.1685+2_1686del
ENST00000356839.9:c.1751+2_1752del
ENST00000542255.6:c.538_631del
ENST00000543245.6:c.1820+2_1821del
ENST00000578033.1:n.84_177del
ENST00000578319.5:n.332+2_333del
ENST00000578711.1:n.1212_1305del
ENST00000578809.5:n.323+2_324del
ENST00000579425.5:n.867+2_868del
ENST00000579546.1:c.486+2_487del
ENST00000583074.5:n.301_394del
ENST00000583848.5:c.117+2_118del
ENST00000583850.5:n.522+2_523del
ENST00000583858.5:c.682+2_683del
ENST00000585203.6:n.942+2_943del
NM_000018.3:c.1751+2_1752del
NM_001033859.2:c.1685+2_1686del
NM_001270447.1:c.1820+2_1821del
NM_001270448.1:c.1523+2_1524del
XM_006721516.2:c.1680_1773del
XM_011523829.1:c.1578_1671del
XM_011523830.1:c.1649+2_1650del
XR_934021.1:n.1854+2_1855del
XR_934022.1:n.1760+2_1761del
XR_934023.1:n.1689_1782del
XM_006721516.3:c.1680_1773del
XM_011523829.2:c.1578_1671del
XM_011523830.2:c.1649+2_1650del
XM_024450741.1:c.1739+2_1740del
XR_934021.2:n.1806+2_1807del
XR_934022.2:n.1712+2_1713del
XR_934023.2:n.1641_1734del
NM_000018.4:c.1751+2_1752del
NM_001033859.3:c.1685+2_1686del
NM_001270447.2:c.1820+2_1821del
NM_001270448.2:c.1523+2_1524del