Canonical Allele Identifier: CA2245709207
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222678_7222679delinsAG , CM000679.2:g.7222678_7222679delinsAG GRCh38
NC_000017.10:g.7125997_7125998delinsAG , CM000679.1:g.7125997_7125998delinsAG GRCh37
NC_000017.9:g.7066721_7066722delinsAG NCBI36
NG_007975.1:g.7845_7846delinsAG
NG_008391.2:g.2372_2373delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.890_891delinsAG MANE Select ENSP00000349297.5:p.Glu297=
ENST00000322910.9:c.*845_*846delinsAG ENSP00000325395.5:n.*845_*846delinsAG
ENST00000350303.9:c.824_825delinsAG ENSP00000344152.5:p.Glu275=
ENST00000356839.9:c.890_891delinsAG ENSP00000349297.5:p.Glu297=
ENST00000543245.6:c.959_960delinsAG ENSP00000438689.2:p.Glu320=
ENST00000578824.5:n.39_40delinsAG
ENST00000581378.5:c.608_609delinsAG
ENST00000582379.1:n.274_275delinsAG
NM_000018.3:c.890_891delinsAG NP_000009.1:p.Glu297=
NM_001033859.2:c.824_825delinsAG NP_001029031.1:p.Glu275=
NM_001270447.1:c.959_960delinsAG NP_001257376.1:p.Glu320=
NM_001270448.1:c.662_663delinsAG NP_001257377.1:p.Glu221=
XM_006721516.2:c.890_891delinsAG XP_006721579.2:p.Glu297=
XM_011523829.1:c.890_891delinsAG XP_011522131.1:p.Glu297=
XM_011523830.1:c.890_891delinsAG XP_011522132.1:p.Glu297=
XR_934021.1:n.997_998delinsAG
XR_934022.1:n.997_998delinsAG
XR_934023.1:n.997_998delinsAG
XM_006721516.3:c.890_891delinsAG XP_006721579.2:p.Glu297=
XM_011523829.2:c.890_891delinsAG XP_011522131.1:p.Glu297=
XM_011523830.2:c.890_891delinsAG XP_011522132.1:p.Glu297=
XM_024450741.1:c.890_891delinsAG XP_024306509.1:p.Glu297=
XR_934021.2:n.949_950delinsAG
XR_934022.2:n.949_950delinsAG
XR_934023.2:n.949_950delinsAG
NM_000018.4:c.890_891delinsAG MANE Select NP_000009.1:p.Glu297=
NM_001033859.3:c.824_825delinsAG NP_001029031.1:p.Glu275=
NM_001270447.2:c.959_960delinsAG NP_001257376.1:p.Glu320=
NM_001270448.2:c.662_663delinsAG NP_001257377.1:p.Glu221=
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