Canonical Allele Identifier: CA2245701943
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071275248
gnomAD v4: 17-7222408-A-AG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222410dup , CM000679.2:g.7222410dup GRCh38
NC_000017.10:g.7125729dup , CM000679.1:g.7125729dup GRCh37
NC_000017.9:g.7066453dup NCBI36
NG_007975.1:g.7577dup
NG_008391.2:g.2642dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+108dup MANE Select ENSP00000349297.5:n.878+108dup
ENST00000322910.9:c.*833+108dup ENSP00000325395.5:n.*833+108dup
ENST00000350303.9:c.812+108dup ENSP00000344152.5:n.812+108dup
ENST00000356839.9:c.878+108dup ENSP00000349297.5:n.878+108dup
ENST00000543245.6:c.947+108dup ENSP00000438689.2:n.947+108dup
ENST00000577191.5:n.1158dup
ENST00000581378.5:c.596+108dup
ENST00000582379.1:n.262+108dup
NM_000018.3:c.878+108dup NP_000009.1:n.878+108dup
NM_001033859.2:c.812+108dup NP_001029031.1:n.812+108dup
NM_001270447.1:c.947+108dup NP_001257376.1:n.947+108dup
NM_001270448.1:c.650+108dup NP_001257377.1:n.650+108dup
XM_006721516.2:c.878+108dup XP_006721579.2:n.878+108dup
XM_011523829.1:c.878+108dup XP_011522131.1:n.878+108dup
XM_011523830.1:c.878+108dup XP_011522132.1:n.878+108dup
XR_934021.1:n.985+108dup
XR_934022.1:n.985+108dup
XR_934023.1:n.985+108dup
XM_006721516.3:c.878+108dup XP_006721579.2:n.878+108dup
XM_011523829.2:c.878+108dup XP_011522131.1:n.878+108dup
XM_011523830.2:c.878+108dup XP_011522132.1:n.878+108dup
XM_024450741.1:c.878+108dup XP_024306509.1:n.878+108dup
XR_934021.2:n.937+108dup
XR_934022.2:n.937+108dup
XR_934023.2:n.937+108dup
NM_000018.4:c.878+108dup MANE Select NP_000009.1:n.878+108dup
NM_001033859.3:c.812+108dup NP_001029031.1:n.812+108dup
NM_001270447.2:c.947+108dup NP_001257376.1:n.947+108dup
NM_001270448.2:c.650+108dup NP_001257377.1:n.650+108dup
Search 100 bp 5'
Search 100 bp 3'