Canonical Allele Identifier: CA2580094830
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1725326
ClinVar RCV Id: RCV002309010

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224330_7224331insA , CM000679.2:g.7224330_7224331insA GRCh38
NC_000017.10:g.7127649_7127650insA , CM000679.1:g.7127649_7127650insA GRCh37
NC_000017.9:g.7068373_7068374insA NCBI36
NG_007975.1:g.9497_9498insA
NG_008391.2:g.720_721insT
NG_033038.1:g.15214_15215insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1542_1543insA MANE Select ENSP00000349297.5:p.Leu515ThrfsTer?
ENST00000322910.9:c.*1497_*1498insA ENSP00000325395.5:n.*1497_*1498insA
ENST00000350303.9:c.1476_1477insA ENSP00000344152.5:p.Leu493ThrfsTer?
ENST00000356839.9:c.1542_1543insA ENSP00000349297.5:p.Leu515ThrfsTer?
ENST00000542255.6:c.400_401insA
ENST00000543245.6:c.1611_1612insA ENSP00000438689.2:p.Leu538ThrfsTer?
ENST00000578319.5:n.37_38insA
ENST00000578711.1:n.826_827insA
ENST00000578809.5:n.114_115insA
ENST00000579391.1:n.150_151insA
ENST00000579425.5:n.658_659insA
ENST00000579546.1:c.281_282insA
ENST00000579894.5:n.329_330insA
ENST00000582450.1:n.50_51insA
ENST00000583074.5:n.163_164insA
ENST00000583850.5:n.317_318insA
ENST00000583858.5:c.473_474insA
ENST00000585203.6:n.733_734insA
NM_000018.3:c.1542_1543insA NP_000009.1:p.Leu515ThrfsTer?
NM_001033859.2:c.1476_1477insA NP_001029031.1:p.Leu493ThrfsTer?
NM_001270447.1:c.1611_1612insA NP_001257376.1:p.Leu538ThrfsTer?
NM_001270448.1:c.1314_1315insA NP_001257377.1:p.Leu439ThrfsTer?
XM_006721516.2:c.1542_1543insA XP_006721579.2:p.Leu515ThrfsTer?
XM_011523829.1:c.1444_1445insA XP_011522131.1:p.Ala482AspfsTer6
XM_011523830.1:c.1444_1445insA XP_011522132.1:p.Ala482AspfsTer6
XR_934021.1:n.1649_1650insA
XR_934022.1:n.1551_1552insA
XR_934023.1:n.1551_1552insA
XM_006721516.3:c.1542_1543insA XP_006721579.2:p.Leu515ThrfsTer?
XM_011523829.2:c.1444_1445insA XP_011522131.1:p.Ala482AspfsTer6
XM_011523830.2:c.1444_1445insA XP_011522132.1:p.Ala482AspfsTer6
XM_024450741.1:c.1444_1445insA XP_024306509.1:p.Ala482AspfsTer6
XR_934021.2:n.1601_1602insA
XR_934022.2:n.1503_1504insA
XR_934023.2:n.1503_1504insA
NM_000018.4:c.1542_1543insA MANE Select NP_000009.1:p.Leu515ThrfsTer?
NM_001033859.3:c.1476_1477insA NP_001029031.1:p.Leu493ThrfsTer?
NM_001270447.2:c.1611_1612insA NP_001257376.1:p.Leu538ThrfsTer?
NM_001270448.2:c.1314_1315insA NP_001257377.1:p.Leu439ThrfsTer?