Canonical Allele Identifier: CA2245709358
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222718_7222719delinsGT , CM000679.2:g.7222718_7222719delinsGT GRCh38
NC_000017.10:g.7126037_7126038delinsGT , CM000679.1:g.7126037_7126038delinsGT GRCh37
NC_000017.9:g.7066761_7066762delinsGT NCBI36
NG_007975.1:g.7885_7886delinsGT
NG_008391.2:g.2332_2333delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.930_931delinsGT MANE Select ENSP00000349297.5:p.Val310=
ENST00000322910.9:c.*885_*886delinsGT ENSP00000325395.5:n.*885_*886delinsGT
ENST00000350303.9:c.864_865delinsGT ENSP00000344152.5:p.Val288=
ENST00000356839.9:c.930_931delinsGT ENSP00000349297.5:p.Val310=
ENST00000543245.6:c.999_1000delinsGT ENSP00000438689.2:p.Val333=
ENST00000578824.5:n.79_80delinsGT
ENST00000581378.5:c.648_649delinsGT
ENST00000582379.1:n.314_315delinsGT
NM_000018.3:c.930_931delinsGT NP_000009.1:p.Val310=
NM_001033859.2:c.864_865delinsGT NP_001029031.1:p.Val288=
NM_001270447.1:c.999_1000delinsGT NP_001257376.1:p.Val333=
NM_001270448.1:c.702_703delinsGT NP_001257377.1:p.Val234=
XM_006721516.2:c.930_931delinsGT XP_006721579.2:p.Val310=
XM_011523829.1:c.930_931delinsGT XP_011522131.1:p.Val310=
XM_011523830.1:c.930_931delinsGT XP_011522132.1:p.Val310=
XR_934021.1:n.1037_1038delinsGT
XR_934022.1:n.1037_1038delinsGT
XR_934023.1:n.1037_1038delinsGT
XM_006721516.3:c.930_931delinsGT XP_006721579.2:p.Val310=
XM_011523829.2:c.930_931delinsGT XP_011522131.1:p.Val310=
XM_011523830.2:c.930_931delinsGT XP_011522132.1:p.Val310=
XM_024450741.1:c.930_931delinsGT XP_024306509.1:p.Val310=
XR_934021.2:n.989_990delinsGT
XR_934022.2:n.989_990delinsGT
XR_934023.2:n.989_990delinsGT
NM_000018.4:c.930_931delinsGT MANE Select NP_000009.1:p.Val310=
NM_001033859.3:c.864_865delinsGT NP_001029031.1:p.Val288=
NM_001270447.2:c.999_1000delinsGT NP_001257376.1:p.Val333=
NM_001270448.2:c.702_703delinsGT NP_001257377.1:p.Val234=
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