Canonical Allele Identifier: CA2635782067
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222221-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222222dup , CM000679.2:g.7222222dup GRCh38
NC_000017.10:g.7125541dup , CM000679.1:g.7125541dup GRCh37
NC_000017.9:g.7066265dup NCBI36
NG_007975.1:g.7389dup
NG_008391.2:g.2829dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.798dup MANE Select ENSP00000349297.5:p.Val267SerfsTer?
ENST00000322910.9:c.*753dup ENSP00000325395.5:n.*753dup
ENST00000350303.9:c.732dup ENSP00000344152.5:p.Val245SerfsTer?
ENST00000356839.9:c.798dup ENSP00000349297.5:p.Val267SerfsTer?
ENST00000543245.6:c.867dup ENSP00000438689.2:p.Val290SerfsTer?
ENST00000577191.5:n.970dup
ENST00000581378.5:c.516dup
ENST00000582379.1:n.182dup
NM_000018.3:c.798dup NP_000009.1:p.Val267SerfsTer?
NM_001033859.2:c.732dup NP_001029031.1:p.Val245SerfsTer?
NM_001270447.1:c.867dup NP_001257376.1:p.Val290SerfsTer?
NM_001270448.1:c.570dup NP_001257377.1:p.Val191SerfsTer?
XM_006721516.2:c.798dup XP_006721579.2:p.Val267SerfsTer?
XM_011523829.1:c.798dup XP_011522131.1:p.Val267SerfsTer?
XM_011523830.1:c.798dup XP_011522132.1:p.Val267SerfsTer?
XR_934021.1:n.905dup
XR_934022.1:n.905dup
XR_934023.1:n.905dup
XM_006721516.3:c.798dup XP_006721579.2:p.Val267SerfsTer?
XM_011523829.2:c.798dup XP_011522131.1:p.Val267SerfsTer?
XM_011523830.2:c.798dup XP_011522132.1:p.Val267SerfsTer?
XM_024450741.1:c.798dup XP_024306509.1:p.Val267SerfsTer?
XR_934021.2:n.857dup
XR_934022.2:n.857dup
XR_934023.2:n.857dup
NM_000018.4:c.798dup MANE Select NP_000009.1:p.Val267SerfsTer?
NM_001033859.3:c.732dup NP_001029031.1:p.Val245SerfsTer?
NM_001270447.2:c.867dup NP_001257376.1:p.Val290SerfsTer?
NM_001270448.2:c.570dup NP_001257377.1:p.Val191SerfsTer?
Search 100 bp 5'
Search 100 bp 3'