Canonical Allele Identifier: CA2245697644
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220154_7220164delinsGGCCCGGCCCT , CM000679.2:g.7220154_7220164delinsGGCCCGGCCCT GRCh38
NC_000017.10:g.7123473_7123483delinsGGCCCGGCCCT , CM000679.1:g.7123473_7123483delinsGGCCCGGCCCT GRCh37
NC_000017.9:g.7064197_7064207delinsGGCCCGGCCCT NCBI36
NG_007975.1:g.5321_5331delinsGGCCCGGCCCT
NG_008391.2:g.4887_4897delinsAGGGCCGGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.95_105delinsGGCCCGGCCCT MANE Select ENSP00000349297.5:p.Arg32=
ENST00000322910.9:c.*50_*60delinsGGCCCGGCCCT ENSP00000325395.5:n.*50_*60delinsGGCCCGGCCCT
ENST00000350303.9:c.95_105delinsGGCCCGGCCCT ENSP00000344152.5:p.Arg32=
ENST00000356839.9:c.95_105delinsGGCCCGGCCCT ENSP00000349297.5:p.Arg32=
ENST00000543245.6:c.164_174delinsGGCCCGGCCCT ENSP00000438689.2:p.Arg55=
ENST00000577191.5:n.172_182delinsGGCCCGGCCCT
ENST00000577857.5:n.185_195delinsGGCCCGGCCCT
ENST00000578269.5:n.202_212delinsGGCCCGGCCCT
ENST00000578421.1:n.229_239delinsGGCCCGGCCCT
ENST00000579286.5:n.202_212delinsGGCCCGGCCCT
ENST00000579886.2:c.95_105delinsGGCCCGGCCCT ENSP00000463246.1:p.Arg32=
ENST00000580263.5:n.185_195delinsGGCCCGGCCCT
ENST00000581562.5:n.142_152delinsGGCCCGGCCCT
ENST00000582056.5:n.185_195delinsGGCCCGGCCCT
ENST00000582356.5:n.220_230delinsGGCCCGGCCCT
ENST00000583312.5:c.95_105delinsGGCCCGGCCCT ENSP00000467920.1:p.Arg32=
ENST00000584103.5:c.95_105delinsGGCCCGGCCCT ENSP00000465353.1:p.Arg32=
NM_000018.3:c.95_105delinsGGCCCGGCCCT NP_000009.1:p.Arg32=
NM_001033859.2:c.95_105delinsGGCCCGGCCCT NP_001029031.1:p.Arg32=
NM_001270447.1:c.164_174delinsGGCCCGGCCCT NP_001257376.1:p.Arg55=
NM_001270448.1:c.-134_-124delinsGGCCCGGCCCT NP_001257377.1:n.-134_-124delinsGGCCCGGCCCT
XM_006721516.2:c.95_105delinsGGCCCGGCCCT XP_006721579.2:p.Arg32=
XM_011523829.1:c.95_105delinsGGCCCGGCCCT XP_011522131.1:p.Arg32=
XM_011523830.1:c.95_105delinsGGCCCGGCCCT XP_011522132.1:p.Arg32=
XR_934021.1:n.202_212delinsGGCCCGGCCCT
XR_934022.1:n.202_212delinsGGCCCGGCCCT
XR_934023.1:n.202_212delinsGGCCCGGCCCT
XM_006721516.3:c.95_105delinsGGCCCGGCCCT XP_006721579.2:p.Arg32=
XM_011523829.2:c.95_105delinsGGCCCGGCCCT XP_011522131.1:p.Arg32=
XM_011523830.2:c.95_105delinsGGCCCGGCCCT XP_011522132.1:p.Arg32=
XM_024450741.1:c.95_105delinsGGCCCGGCCCT XP_024306509.1:p.Arg32=
XR_934021.2:n.154_164delinsGGCCCGGCCCT
XR_934022.2:n.154_164delinsGGCCCGGCCCT
XR_934023.2:n.154_164delinsGGCCCGGCCCT
NM_000018.4:c.95_105delinsGGCCCGGCCCT MANE Select NP_000009.1:p.Arg32=
NM_001033859.3:c.95_105delinsGGCCCGGCCCT NP_001029031.1:p.Arg32=
NM_001270447.2:c.164_174delinsGGCCCGGCCCT NP_001257376.1:p.Arg55=
NM_001270448.2:c.-134_-124delinsGGCCCGGCCCT NP_001257377.1:n.-134_-124delinsGGCCCGGCCCT