Canonical Allele Identifier: CA312289
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 203593
dbSNP Id: rs796051917

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224863_7224864del , CM000679.2:g.7224863_7224864del GRCh38
NC_000017.10:g.7128182_7128183del , CM000679.1:g.7128182_7128183del GRCh37
NC_000017.9:g.7068906_7068907del NCBI36
NG_007975.1:g.10030_10031del
NG_008391.2:g.189_190del
NG_033038.1:g.14683_14684del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1806_1807del MANE Select ENSP00000349297.5:p.Cys603Ter
ENST00000322910.9:c.*1761_*1762del ENSP00000325395.5:n.*1761_*1762del
ENST00000350303.9:c.1740_1741del ENSP00000344152.5:p.Cys581Ter
ENST00000356839.9:c.1806_1807del ENSP00000349297.5:p.Cys603Ter
ENST00000542255.6:c.685_686del
ENST00000543245.6:c.1875_1876del ENSP00000438689.2:p.Cys626Ter
ENST00000578033.1:n.231_232del
ENST00000578319.5:n.387_388del
ENST00000578711.1:n.1359_1360del
ENST00000578809.5:n.378_379del
ENST00000579425.5:n.922_923del
ENST00000579546.1:c.541_542del
ENST00000583848.5:c.172_173del ENSP00000466487.1:n.172_173del
ENST00000583850.5:n.577_578del
ENST00000583858.5:c.737_738del
NM_000018.3:c.1806_1807del NP_000009.1:p.Cys603Ter
NM_001033859.2:c.1740_1741del NP_001029031.1:p.Cys581Ter
NM_001270447.1:c.1875_1876del NP_001257376.1:p.Cys626Ter
NM_001270448.1:c.1578_1579del NP_001257377.1:p.Cys527Ter
XM_006721516.2:c.1827_1828del XP_006721579.2:p.Cys610Ter
XM_011523829.1:c.1725_1726del XP_011522131.1:p.Cys576Ter
XM_011523830.1:c.1704_1705del XP_011522132.1:p.Cys569Ter
XR_934021.1:n.1909_1910del
XR_934022.1:n.1815_1816del
XR_934023.1:n.1836_1837del
XM_006721516.3:c.1827_1828del XP_006721579.2:p.Cys610Ter
XM_011523829.2:c.1725_1726del XP_011522131.1:p.Cys576Ter
XM_011523830.2:c.1704_1705del XP_011522132.1:p.Cys569Ter
XM_024450741.1:c.1794_1795del XP_024306509.1:p.Cys599Ter
XR_934021.2:n.1861_1862del
XR_934022.2:n.1767_1768del
XR_934023.2:n.1788_1789del
NM_000018.4:c.1806_1807del MANE Select NP_000009.1:p.Cys603Ter
NM_001033859.3:c.1740_1741del NP_001029031.1:p.Cys581Ter
NM_001270447.2:c.1875_1876del NP_001257376.1:p.Cys626Ter
NM_001270448.2:c.1578_1579del NP_001257377.1:p.Cys527Ter