Canonical Allele Identifier: CA2739267100
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2855047
ClinVar RCV Id: RCV003602528
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222695_7222696del , CM000679.2:g.7222695_7222696del GRCh38
NC_000017.10:g.7126014_7126015del , CM000679.1:g.7126014_7126015del GRCh37
NC_000017.9:g.7066738_7066739del NCBI36
NG_007975.1:g.7862_7863del
NG_008391.2:g.2355_2356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.907_908del MANE Select ENSP00000349297.5:p.Lys303GlyfsTer10
ENST00000322910.9:c.*862_*863del ENSP00000325395.5:n.*862_*863del
ENST00000350303.9:c.841_842del ENSP00000344152.5:p.Lys281GlyfsTer10
ENST00000356839.9:c.907_908del ENSP00000349297.5:p.Lys303GlyfsTer10
ENST00000543245.6:c.976_977del ENSP00000438689.2:p.Lys326GlyfsTer10
ENST00000578824.5:n.56_57del
ENST00000581378.5:c.625_626del
ENST00000582379.1:n.291_292del
NM_000018.3:c.907_908del NP_000009.1:p.Lys303GlyfsTer10
NM_001033859.2:c.841_842del NP_001029031.1:p.Lys281GlyfsTer10
NM_001270447.1:c.976_977del NP_001257376.1:p.Lys326GlyfsTer10
NM_001270448.1:c.679_680del NP_001257377.1:p.Lys227GlyfsTer10
XM_006721516.2:c.907_908del XP_006721579.2:p.Lys303GlyfsTer10
XM_011523829.1:c.907_908del XP_011522131.1:p.Lys303GlyfsTer10
XM_011523830.1:c.907_908del XP_011522132.1:p.Lys303GlyfsTer10
XR_934021.1:n.1014_1015del
XR_934022.1:n.1014_1015del
XR_934023.1:n.1014_1015del
XM_006721516.3:c.907_908del XP_006721579.2:p.Lys303GlyfsTer10
XM_011523829.2:c.907_908del XP_011522131.1:p.Lys303GlyfsTer10
XM_011523830.2:c.907_908del XP_011522132.1:p.Lys303GlyfsTer10
XM_024450741.1:c.907_908del XP_024306509.1:p.Lys303GlyfsTer10
XR_934021.2:n.966_967del
XR_934022.2:n.966_967del
XR_934023.2:n.966_967del
NM_000018.4:c.907_908del MANE Select NP_000009.1:p.Lys303GlyfsTer10
NM_001033859.3:c.841_842del NP_001029031.1:p.Lys281GlyfsTer10
NM_001270447.2:c.976_977del NP_001257376.1:p.Lys326GlyfsTer10
NM_001270448.2:c.679_680del NP_001257377.1:p.Lys227GlyfsTer10
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