Canonical Allele Identifier: CA16041862
Gene: ACADVL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370717
ClinVar RCV Id: RCV000410797
dbSNP Id: rs1057516714

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221973_7221976del , CM000679.2:g.7221973_7221976del GRCh38
NC_000017.10:g.7125292_7125295del , CM000679.1:g.7125292_7125295del GRCh37
NC_000017.9:g.7066016_7066019del NCBI36
NG_007975.1:g.7140_7143del
NG_008391.2:g.3078_3081del

Transcript Alleles

HGVS Amino-acid change
NM_000018.3:c.644_647del VV NP_000009.1:p.Cys215Ter
NM_001033859.2:c.578_581del VV NP_001029031.1:p.Cys193Ter
NM_001270447.1:c.713_716del VV NP_001257376.1:p.Cys238Ter
NM_001270448.1:c.416_419del VV NP_001257377.1:p.Cys139Ter
XM_006721516.2:c.644_647del XP_006721579.2:p.Cys215Ter
XM_011523829.1:c.644_647del XP_011522131.1:p.Cys215Ter
XM_011523830.1:c.644_647del XP_011522132.1:p.Cys215Ter
XR_934021.1:n.751_754del
XR_934022.1:n.751_754del
XR_934023.1:n.751_754del
XM_006721516.3:c.644_647del XP_006721579.2:p.Cys215Ter
XM_011523829.2:c.644_647del XP_011522131.1:p.Cys215Ter
XM_011523830.2:c.644_647del XP_011522132.1:p.Cys215Ter
XM_024450741.1:c.644_647del XP_024306509.1:p.Cys215Ter
XR_934021.2:n.703_706del
XR_934022.2:n.703_706del
XR_934023.2:n.703_706del
NM_000018.4:c.644_647del VV MANE Preferred NP_000009.1:p.Cys215Ter
ENST00000322910.9:c.*599_*602del ENSP00000325395.5:p.=
ENST00000350303.9:c.578_581del ENSP00000344152.5:p.Cys193Ter
ENST00000356839.9:c.644_647del ENSP00000349297.5:p.Cys215Ter
ENST00000543245.6:c.713_716del ENSP00000438689.2:p.Cys238Ter
ENST00000577191.5:n.721_724del
ENST00000577857.5:n.460_463del
ENST00000579286.5:n.825_828del
ENST00000580365.1:n.375_378del
ENST00000581378.5:n.362_365del
ENST00000581562.5:n.546_549del
ENST00000582379.1:n.28_31del
ENST00000583312.5:c.659_662del ENSP00000467920.1:p.Cys220Ter
ENST00000583760.1:n.426_429del