Canonical Allele Identifier: CA2847430424
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223919_7223920insA , CM000679.2:g.7223919_7223920insA GRCh38
NC_000017.10:g.7127238_7127239insA , CM000679.1:g.7127238_7127239insA GRCh37
NC_000017.9:g.7067962_7067963insA NCBI36
NG_007975.1:g.9086_9087insA
NG_008391.2:g.1131_1132insT
NG_033038.1:g.15625_15626insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1332+44_1332+45insA MANE Select ENSP00000349297.5:n.1332+44_1332+45insA
ENST00000322910.9:c.*1287+44_*1287+45insA ENSP00000325395.5:n.*1287+44_*1287+45insA
ENST00000350303.9:c.1266+44_1266+45insA ENSP00000344152.5:n.1266+44_1266+45insA
ENST00000356839.9:c.1332+44_1332+45insA ENSP00000349297.5:n.1332+44_1332+45insA
ENST00000542255.6:c.190+44_190+45insA
ENST00000543245.6:c.1401+44_1401+45insA ENSP00000438689.2:n.1401+44_1401+45insA
ENST00000578711.1:n.415_416insA
ENST00000579425.5:n.400_401insA
ENST00000579546.1:c.169+44_169+45insA
ENST00000583074.5:n.51+44_51+45insA
ENST00000583850.5:n.107+44_107+45insA
ENST00000583858.5:c.361+44_361+45insA
ENST00000585203.6:n.524-49_524-48insA
NM_000018.3:c.1332+44_1332+45insA NP_000009.1:n.1332+44_1332+45insA
NM_001033859.2:c.1266+44_1266+45insA NP_001029031.1:n.1266+44_1266+45insA
NM_001270447.1:c.1401+44_1401+45insA NP_001257376.1:n.1401+44_1401+45insA
NM_001270448.1:c.1104+44_1104+45insA NP_001257377.1:n.1104+44_1104+45insA
XM_006721516.2:c.1332+44_1332+45insA XP_006721579.2:n.1332+44_1332+45insA
XM_011523829.1:c.1332+44_1332+45insA XP_011522131.1:n.1332+44_1332+45insA
XM_011523830.1:c.1332+44_1332+45insA XP_011522132.1:n.1332+44_1332+45insA
XR_934021.1:n.1439+44_1439+45insA
XR_934022.1:n.1439+44_1439+45insA
XR_934023.1:n.1439+44_1439+45insA
XM_006721516.3:c.1332+44_1332+45insA XP_006721579.2:n.1332+44_1332+45insA
XM_011523829.2:c.1332+44_1332+45insA XP_011522131.1:n.1332+44_1332+45insA
XM_011523830.2:c.1332+44_1332+45insA XP_011522132.1:n.1332+44_1332+45insA
XM_024450741.1:c.1332+44_1332+45insA XP_024306509.1:n.1332+44_1332+45insA
XR_934021.2:n.1391+44_1391+45insA
XR_934022.2:n.1391+44_1391+45insA
XR_934023.2:n.1391+44_1391+45insA
NM_000018.4:c.1332+44_1332+45insA MANE Select NP_000009.1:n.1332+44_1332+45insA
NM_001033859.3:c.1266+44_1266+45insA NP_001029031.1:n.1266+44_1266+45insA
NM_001270447.2:c.1401+44_1401+45insA NP_001257376.1:n.1401+44_1401+45insA
NM_001270448.2:c.1104+44_1104+45insA NP_001257377.1:n.1104+44_1104+45insA