Canonical Allele Identifier: CA913190952
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 595610
dbSNP Id: rs1567567440

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223860dup , CM000679.2:g.7223860dup GRCh38
NC_000017.10:g.7127179dup , CM000679.1:g.7127179dup GRCh37
NC_000017.9:g.7067903dup NCBI36
NG_007975.1:g.9027dup
NG_008391.2:g.1191dup
NG_033038.1:g.15685dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1317dup MANE Select ENSP00000349297.5:p.Met440TyrfsTer23
ENST00000322910.9:c.*1272dup ENSP00000325395.5:n.*1272dup
ENST00000350303.9:c.1251dup ENSP00000344152.5:p.Met418TyrfsTer23
ENST00000356839.9:c.1317dup ENSP00000349297.5:p.Met440TyrfsTer23
ENST00000542255.6:c.175dup
ENST00000543245.6:c.1386dup ENSP00000438689.2:p.Met463TyrfsTer23
ENST00000578711.1:n.356dup
ENST00000579425.5:n.341dup
ENST00000579546.1:c.154dup
ENST00000583074.5:n.36dup
ENST00000583850.5:n.92dup
ENST00000583858.5:c.346dup
ENST00000585203.6:n.523+2dup
NM_000018.3:c.1317dup NP_000009.1:p.Met440TyrfsTer23
NM_001033859.2:c.1251dup NP_001029031.1:p.Met418TyrfsTer23
NM_001270447.1:c.1386dup NP_001257376.1:p.Met463TyrfsTer23
NM_001270448.1:c.1089dup NP_001257377.1:p.Met364TyrfsTer23
XM_006721516.2:c.1317dup XP_006721579.2:p.Met440TyrfsTer23
XM_011523829.1:c.1317dup XP_011522131.1:p.Met440TyrfsTer23
XM_011523830.1:c.1317dup XP_011522132.1:p.Met440TyrfsTer23
XR_934021.1:n.1424dup
XR_934022.1:n.1424dup
XR_934023.1:n.1424dup
XM_006721516.3:c.1317dup XP_006721579.2:p.Met440TyrfsTer23
XM_011523829.2:c.1317dup XP_011522131.1:p.Met440TyrfsTer23
XM_011523830.2:c.1317dup XP_011522132.1:p.Met440TyrfsTer23
XM_024450741.1:c.1317dup XP_024306509.1:p.Met440TyrfsTer23
XR_934021.2:n.1376dup
XR_934022.2:n.1376dup
XR_934023.2:n.1376dup
NM_000018.4:c.1317dup MANE Select NP_000009.1:p.Met440TyrfsTer23
NM_001033859.3:c.1251dup NP_001029031.1:p.Met418TyrfsTer23
NM_001270447.2:c.1386dup NP_001257376.1:p.Met463TyrfsTer23
NM_001270448.2:c.1089dup NP_001257377.1:p.Met364TyrfsTer23