Canonical Allele Identifier: CA913013636
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126037_7126038del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222718_7222719del , CM000679.2:g.7222718_7222719del GRCh38
NC_000017.10:g.7126037_7126038del , CM000679.1:g.7126037_7126038del GRCh37
NC_000017.9:g.7066761_7066762del NCBI36
NG_007975.1:g.7885_7886del
NG_008391.2:g.2334_2335del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.930_931del MANE Select ENSP00000349297.5:p.Phe311LeufsTer2
ENST00000322910.9:c.*885_*886del ENSP00000325395.5:n.*885_*886del
ENST00000350303.9:c.864_865del ENSP00000344152.5:p.Phe289LeufsTer2
ENST00000356839.9:c.930_931del ENSP00000349297.5:p.Phe311LeufsTer2
ENST00000543245.6:c.999_1000del ENSP00000438689.2:p.Phe334LeufsTer2
ENST00000578824.5:n.79_80del
ENST00000581378.5:c.648_649del
ENST00000582379.1:n.314_315del
NM_000018.3:c.930_931del NP_000009.1:p.Phe311LeufsTer2
NM_001033859.2:c.864_865del NP_001029031.1:p.Phe289LeufsTer2
NM_001270447.1:c.999_1000del NP_001257376.1:p.Phe334LeufsTer2
NM_001270448.1:c.702_703del NP_001257377.1:p.Phe235LeufsTer2
XM_006721516.2:c.930_931del XP_006721579.2:p.Phe311LeufsTer2
XM_011523829.1:c.930_931del XP_011522131.1:p.Phe311LeufsTer2
XM_011523830.1:c.930_931del XP_011522132.1:p.Phe311LeufsTer2
XR_934021.1:n.1037_1038del
XR_934022.1:n.1037_1038del
XR_934023.1:n.1037_1038del
XM_006721516.3:c.930_931del XP_006721579.2:p.Phe311LeufsTer2
XM_011523829.2:c.930_931del XP_011522131.1:p.Phe311LeufsTer2
XM_011523830.2:c.930_931del XP_011522132.1:p.Phe311LeufsTer2
XM_024450741.1:c.930_931del XP_024306509.1:p.Phe311LeufsTer2
XR_934021.2:n.989_990del
XR_934022.2:n.989_990del
XR_934023.2:n.989_990del
NM_000018.4:c.930_931del MANE Select NP_000009.1:p.Phe311LeufsTer2
NM_001033859.3:c.864_865del NP_001029031.1:p.Phe289LeufsTer2
NM_001270447.2:c.999_1000del NP_001257376.1:p.Phe334LeufsTer2
NM_001270448.2:c.702_703del NP_001257377.1:p.Phe235LeufsTer2
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