Canonical Allele Identifier: CA2739267097
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2794091
ClinVar RCV Id: RCV003600762

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221605dup , CM000679.2:g.7221605dup GRCh38
NC_000017.10:g.7124924dup , CM000679.1:g.7124924dup GRCh37
NC_000017.9:g.7065648dup NCBI36
NG_007975.1:g.6772dup
NG_008391.2:g.3446dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.545dup MANE Select ENSP00000349297.5:p.Ser183GlufsTer?
ENST00000322910.9:c.*500dup ENSP00000325395.5:n.*500dup
ENST00000350303.9:c.479dup ENSP00000344152.5:p.Ser161GlufsTer?
ENST00000356839.9:c.545dup ENSP00000349297.5:p.Ser183GlufsTer?
ENST00000543245.6:c.614dup ENSP00000438689.2:p.Ser206GlufsTer?
ENST00000577191.5:n.622dup
ENST00000577433.5:n.753dup
ENST00000577857.5:n.361dup
ENST00000579286.5:n.726dup
ENST00000579886.2:c.383dup ENSP00000463246.1:p.Ser129GlufsTer?
ENST00000580365.1:n.276dup
ENST00000581378.5:c.263dup
ENST00000581562.5:n.525-347dup
ENST00000582166.1:n.526dup
ENST00000583312.5:c.545dup ENSP00000467920.1:p.Ser183GlufsTer?
ENST00000583760.1:n.327dup
NM_000018.3:c.545dup NP_000009.1:p.Ser183GlufsTer?
NM_001033859.2:c.479dup NP_001029031.1:p.Ser161GlufsTer?
NM_001270447.1:c.614dup NP_001257376.1:p.Ser206GlufsTer?
NM_001270448.1:c.317dup NP_001257377.1:p.Ser107GlufsTer?
XM_006721516.2:c.545dup XP_006721579.2:p.Ser183GlufsTer?
XM_011523829.1:c.545dup XP_011522131.1:p.Ser183GlufsTer?
XM_011523830.1:c.545dup XP_011522132.1:p.Ser183GlufsTer?
XR_934021.1:n.652dup
XR_934022.1:n.652dup
XR_934023.1:n.652dup
XM_006721516.3:c.545dup XP_006721579.2:p.Ser183GlufsTer?
XM_011523829.2:c.545dup XP_011522131.1:p.Ser183GlufsTer?
XM_011523830.2:c.545dup XP_011522132.1:p.Ser183GlufsTer?
XM_024450741.1:c.545dup XP_024306509.1:p.Ser183GlufsTer?
XR_934021.2:n.604dup
XR_934022.2:n.604dup
XR_934023.2:n.604dup
NM_000018.4:c.545dup MANE Select NP_000009.1:p.Ser183GlufsTer?
NM_001033859.3:c.479dup NP_001029031.1:p.Ser161GlufsTer?
NM_001270447.2:c.614dup NP_001257376.1:p.Ser206GlufsTer?
NM_001270448.2:c.317dup NP_001257377.1:p.Ser107GlufsTer?