Canonical Allele Identifier: CA2808365919
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221660_7221661insACCCAAACACACCCAACACA , CM000679.2:g.7221660_7221661insACCCAAACACACCCAACACA GRCh38
NC_000017.10:g.7124979_7124980insACCCAAACACACCCAACACA , CM000679.1:g.7124979_7124980insACCCAAACACACCCAACACA GRCh37
NC_000017.9:g.7065703_7065704insACCCAAACACACCCAACACA NCBI36
NG_007975.1:g.6827_6828insACCCAAACACACCCAACACA
NG_008391.2:g.3391_3392insGTGTTGGGTGTGTTTGGGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.600_601insACCCAAACACACCCAACACA MANE Select ENSP00000349297.5:p.Tyr201ThrfsTer23
ENST00000322910.9:c.*555_*556insACCCAAACACACCCAACACA ENSP00000325395.5:n.*555_*556insACCCAAACACACCCAACACA
ENST00000350303.9:c.534_535insACCCAAACACACCCAACACA ENSP00000344152.5:p.Tyr179ThrfsTer23
ENST00000356839.9:c.600_601insACCCAAACACACCCAACACA ENSP00000349297.5:p.Tyr201ThrfsTer23
ENST00000543245.6:c.669_670insACCCAAACACACCCAACACA ENSP00000438689.2:p.Tyr224ThrfsTer23
ENST00000577191.5:n.677_678insACCCAAACACACCCAACACA
ENST00000577857.5:n.416_417insACCCAAACACACCCAACACA
ENST00000579286.5:n.781_782insACCCAAACACACCCAACACA
ENST00000579886.2:c.438_439insACCCAAACACACCCAACACA ENSP00000463246.1:p.Tyr147ThrfsTer?
ENST00000580365.1:n.331_332insACCCAAACACACCCAACACA
ENST00000581378.5:c.318_319insACCCAAACACACCCAACACA
ENST00000581562.5:n.525-292_525-291insACCCAAACACACCCAACACA
ENST00000583312.5:c.600_601insACCCAAACACACCCAACACA ENSP00000467920.1:p.Tyr201ThrfsTer28
ENST00000583760.1:n.382_383insACCCAAACACACCCAACACA
NM_000018.3:c.600_601insACCCAAACACACCCAACACA NP_000009.1:p.Tyr201ThrfsTer23
NM_001033859.2:c.534_535insACCCAAACACACCCAACACA NP_001029031.1:p.Tyr179ThrfsTer23
NM_001270447.1:c.669_670insACCCAAACACACCCAACACA NP_001257376.1:p.Tyr224ThrfsTer23
NM_001270448.1:c.372_373insACCCAAACACACCCAACACA NP_001257377.1:p.Tyr125ThrfsTer23
XM_006721516.2:c.600_601insACCCAAACACACCCAACACA XP_006721579.2:p.Tyr201ThrfsTer23
XM_011523829.1:c.600_601insACCCAAACACACCCAACACA XP_011522131.1:p.Tyr201ThrfsTer23
XM_011523830.1:c.600_601insACCCAAACACACCCAACACA XP_011522132.1:p.Tyr201ThrfsTer23
XR_934021.1:n.707_708insACCCAAACACACCCAACACA
XR_934022.1:n.707_708insACCCAAACACACCCAACACA
XR_934023.1:n.707_708insACCCAAACACACCCAACACA
XM_006721516.3:c.600_601insACCCAAACACACCCAACACA XP_006721579.2:p.Tyr201ThrfsTer23
XM_011523829.2:c.600_601insACCCAAACACACCCAACACA XP_011522131.1:p.Tyr201ThrfsTer23
XM_011523830.2:c.600_601insACCCAAACACACCCAACACA XP_011522132.1:p.Tyr201ThrfsTer23
XM_024450741.1:c.600_601insACCCAAACACACCCAACACA XP_024306509.1:p.Tyr201ThrfsTer23
XR_934021.2:n.659_660insACCCAAACACACCCAACACA
XR_934022.2:n.659_660insACCCAAACACACCCAACACA
XR_934023.2:n.659_660insACCCAAACACACCCAACACA
NM_000018.4:c.600_601insACCCAAACACACCCAACACA MANE Select NP_000009.1:p.Tyr201ThrfsTer23
NM_001033859.3:c.534_535insACCCAAACACACCCAACACA NP_001029031.1:p.Tyr179ThrfsTer23
NM_001270447.2:c.669_670insACCCAAACACACCCAACACA NP_001257376.1:p.Tyr224ThrfsTer23
NM_001270448.2:c.372_373insACCCAAACACACCCAACACA NP_001257377.1:p.Tyr125ThrfsTer23