Canonical Allele Identifier: CA2635781206
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2858249
ClinVar RCV Id: RCV003599913
gnomAD v4: 17-7221541-GCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221543_7221544del , CM000679.2:g.7221543_7221544del GRCh38
NC_000017.10:g.7124862_7124863del , CM000679.1:g.7124862_7124863del GRCh37
NC_000017.9:g.7065586_7065587del NCBI36
NG_007975.1:g.6710_6711del
NG_008391.2:g.3508_3509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.483_484del MANE Select ENSP00000349297.5:p.Arg162PhefsTer9
ENST00000322910.9:c.*438_*439del ENSP00000325395.5:n.*438_*439del
ENST00000350303.9:c.417_418del ENSP00000344152.5:p.Arg140PhefsTer9
ENST00000356839.9:c.483_484del ENSP00000349297.5:p.Arg162PhefsTer9
ENST00000543245.6:c.552_553del ENSP00000438689.2:p.Arg185PhefsTer9
ENST00000577191.5:n.560_561del
ENST00000577433.5:n.691_692del
ENST00000577857.5:n.299_300del
ENST00000579286.5:n.664_665del
ENST00000579886.2:c.321_322del ENSP00000463246.1:p.Arg108PhefsTer9
ENST00000580365.1:n.214_215del
ENST00000581378.5:c.201_202del
ENST00000581562.5:n.525-409_525-408del
ENST00000582166.1:n.464_465del
ENST00000583312.5:c.483_484del ENSP00000467920.1:p.Arg162PhefsTer9
ENST00000583760.1:n.265_266del
NM_000018.3:c.483_484del NP_000009.1:p.Arg162PhefsTer9
NM_001033859.2:c.417_418del NP_001029031.1:p.Arg140PhefsTer9
NM_001270447.1:c.552_553del NP_001257376.1:p.Arg185PhefsTer9
NM_001270448.1:c.255_256del NP_001257377.1:p.Arg86PhefsTer9
XM_006721516.2:c.483_484del XP_006721579.2:p.Arg162PhefsTer9
XM_011523829.1:c.483_484del XP_011522131.1:p.Arg162PhefsTer9
XM_011523830.1:c.483_484del XP_011522132.1:p.Arg162PhefsTer9
XR_934021.1:n.590_591del
XR_934022.1:n.590_591del
XR_934023.1:n.590_591del
XM_006721516.3:c.483_484del XP_006721579.2:p.Arg162PhefsTer9
XM_011523829.2:c.483_484del XP_011522131.1:p.Arg162PhefsTer9
XM_011523830.2:c.483_484del XP_011522132.1:p.Arg162PhefsTer9
XM_024450741.1:c.483_484del XP_024306509.1:p.Arg162PhefsTer9
XR_934021.2:n.542_543del
XR_934022.2:n.542_543del
XR_934023.2:n.542_543del
NM_000018.4:c.483_484del MANE Select NP_000009.1:p.Arg162PhefsTer9
NM_001033859.3:c.417_418del NP_001029031.1:p.Arg140PhefsTer9
NM_001270447.2:c.552_553del NP_001257376.1:p.Arg185PhefsTer9
NM_001270448.2:c.255_256del NP_001257377.1:p.Arg86PhefsTer9
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