Canonical Allele Identifier: CA2635783171
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222750-A-AC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222751dup , CM000679.2:g.7222751dup GRCh38
NC_000017.10:g.7126070dup , CM000679.1:g.7126070dup GRCh37
NC_000017.9:g.7066794dup NCBI36
NG_007975.1:g.7918dup
NG_008391.2:g.2300dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.963dup MANE Select ENSP00000349297.5:p.Val322ArgfsTer4
ENST00000322910.9:c.*918dup ENSP00000325395.5:n.*918dup
ENST00000350303.9:c.897dup ENSP00000344152.5:p.Val300ArgfsTer4
ENST00000356839.9:c.963dup ENSP00000349297.5:p.Val322ArgfsTer4
ENST00000543245.6:c.1032dup ENSP00000438689.2:p.Val345ArgfsTer4
ENST00000578824.5:n.112dup
ENST00000581378.5:c.681dup
ENST00000582379.1:n.347dup
NM_000018.3:c.963dup NP_000009.1:p.Val322ArgfsTer4
NM_001033859.2:c.897dup NP_001029031.1:p.Val300ArgfsTer4
NM_001270447.1:c.1032dup NP_001257376.1:p.Val345ArgfsTer4
NM_001270448.1:c.735dup NP_001257377.1:p.Val246ArgfsTer4
XM_006721516.2:c.963dup XP_006721579.2:p.Val322ArgfsTer4
XM_011523829.1:c.963dup XP_011522131.1:p.Val322ArgfsTer4
XM_011523830.1:c.963dup XP_011522132.1:p.Val322ArgfsTer4
XR_934021.1:n.1070dup
XR_934022.1:n.1070dup
XR_934023.1:n.1070dup
XM_006721516.3:c.963dup XP_006721579.2:p.Val322ArgfsTer4
XM_011523829.2:c.963dup XP_011522131.1:p.Val322ArgfsTer4
XM_011523830.2:c.963dup XP_011522132.1:p.Val322ArgfsTer4
XM_024450741.1:c.963dup XP_024306509.1:p.Val322ArgfsTer4
XR_934021.2:n.1022dup
XR_934022.2:n.1022dup
XR_934023.2:n.1022dup
NM_000018.4:c.963dup MANE Select NP_000009.1:p.Val322ArgfsTer4
NM_001033859.3:c.897dup NP_001029031.1:p.Val300ArgfsTer4
NM_001270447.2:c.1032dup NP_001257376.1:p.Val345ArgfsTer4
NM_001270448.2:c.735dup NP_001257377.1:p.Val246ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'