Canonical Allele Identifier: CA2697557228
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2711063
ClinVar RCV Id: RCV003499016

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222200_7222201insA , CM000679.2:g.7222200_7222201insA GRCh38
NC_000017.10:g.7125519_7125520insA , CM000679.1:g.7125519_7125520insA GRCh37
NC_000017.9:g.7066243_7066244insA NCBI36
NG_007975.1:g.7367_7368insA
NG_008391.2:g.2850_2851insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.776_777insA MANE Select ENSP00000349297.5:p.Phe259LeufsTer?
ENST00000322910.9:c.*731_*732insA ENSP00000325395.5:n.*731_*732insA
ENST00000350303.9:c.710_711insA ENSP00000344152.5:p.Phe237LeufsTer?
ENST00000356839.9:c.776_777insA ENSP00000349297.5:p.Phe259LeufsTer?
ENST00000543245.6:c.845_846insA ENSP00000438689.2:p.Phe282LeufsTer?
ENST00000577191.5:n.948_949insA
ENST00000581378.5:c.494_495insA
ENST00000582379.1:n.160_161insA
NM_000018.3:c.776_777insA NP_000009.1:p.Phe259LeufsTer?
NM_001033859.2:c.710_711insA NP_001029031.1:p.Phe237LeufsTer?
NM_001270447.1:c.845_846insA NP_001257376.1:p.Phe282LeufsTer?
NM_001270448.1:c.548_549insA NP_001257377.1:p.Phe183LeufsTer?
XM_006721516.2:c.776_777insA XP_006721579.2:p.Phe259LeufsTer?
XM_011523829.1:c.776_777insA XP_011522131.1:p.Phe259LeufsTer?
XM_011523830.1:c.776_777insA XP_011522132.1:p.Phe259LeufsTer?
XR_934021.1:n.883_884insA
XR_934022.1:n.883_884insA
XR_934023.1:n.883_884insA
XM_006721516.3:c.776_777insA XP_006721579.2:p.Phe259LeufsTer?
XM_011523829.2:c.776_777insA XP_011522131.1:p.Phe259LeufsTer?
XM_011523830.2:c.776_777insA XP_011522132.1:p.Phe259LeufsTer?
XM_024450741.1:c.776_777insA XP_024306509.1:p.Phe259LeufsTer?
XR_934021.2:n.835_836insA
XR_934022.2:n.835_836insA
XR_934023.2:n.835_836insA
NM_000018.4:c.776_777insA MANE Select NP_000009.1:p.Phe259LeufsTer?
NM_001033859.3:c.710_711insA NP_001029031.1:p.Phe237LeufsTer?
NM_001270447.2:c.845_846insA NP_001257376.1:p.Phe282LeufsTer?
NM_001270448.2:c.548_549insA NP_001257377.1:p.Phe183LeufsTer?