Canonical Allele Identifier: CA16041861
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 370277
ClinVar RCV Id: RCV000412008
dbSNP Id: rs1057516369

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221557_7221558del , CM000679.2:g.7221557_7221558del GRCh38
NC_000017.10:g.7124876_7124877del , CM000679.1:g.7124876_7124877del GRCh37
NC_000017.9:g.7065600_7065601del NCBI36
NG_007975.1:g.6724_6725del
NG_008391.2:g.3493_3494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.497_498del MANE Select ENSP00000349297.5:p.Ile166SerfsTer5
ENST00000322910.9:c.*452_*453del ENSP00000325395.5:n.*452_*453del
ENST00000350303.9:c.431_432del ENSP00000344152.5:p.Ile144SerfsTer5
ENST00000356839.9:c.497_498del ENSP00000349297.5:p.Ile166SerfsTer5
ENST00000543245.6:c.566_567del ENSP00000438689.2:p.Ile189SerfsTer5
ENST00000577191.5:n.574_575del
ENST00000577433.5:n.705_706del
ENST00000577857.5:n.313_314del
ENST00000579286.5:n.678_679del
ENST00000579886.2:c.335_336del ENSP00000463246.1:p.Ile112SerfsTer5
ENST00000580365.1:n.228_229del
ENST00000581378.5:c.215_216del
ENST00000581562.5:n.525-395_525-394del
ENST00000582166.1:n.478_479del
ENST00000583312.5:c.497_498del ENSP00000467920.1:p.Ile166SerfsTer5
ENST00000583760.1:n.279_280del
NM_000018.3:c.497_498del NP_000009.1:p.Ile166SerfsTer5
NM_001033859.2:c.431_432del NP_001029031.1:p.Ile144SerfsTer5
NM_001270447.1:c.566_567del NP_001257376.1:p.Ile189SerfsTer5
NM_001270448.1:c.269_270del NP_001257377.1:p.Ile90SerfsTer5
XM_006721516.2:c.497_498del XP_006721579.2:p.Ile166SerfsTer5
XM_011523829.1:c.497_498del XP_011522131.1:p.Ile166SerfsTer5
XM_011523830.1:c.497_498del XP_011522132.1:p.Ile166SerfsTer5
XR_934021.1:n.604_605del
XR_934022.1:n.604_605del
XR_934023.1:n.604_605del
XM_006721516.3:c.497_498del XP_006721579.2:p.Ile166SerfsTer5
XM_011523829.2:c.497_498del XP_011522131.1:p.Ile166SerfsTer5
XM_011523830.2:c.497_498del XP_011522132.1:p.Ile166SerfsTer5
XM_024450741.1:c.497_498del XP_024306509.1:p.Ile166SerfsTer5
XR_934021.2:n.556_557del
XR_934022.2:n.556_557del
XR_934023.2:n.556_557del
NM_000018.4:c.497_498del MANE Select NP_000009.1:p.Ile166SerfsTer5
NM_001033859.3:c.431_432del NP_001029031.1:p.Ile144SerfsTer5
NM_001270447.2:c.566_567del NP_001257376.1:p.Ile189SerfsTer5
NM_001270448.2:c.269_270del NP_001257377.1:p.Ile90SerfsTer5