Canonical Allele Identifier: CA1139533032
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932880
ClinVar RCV Id: RCV001200844
dbSNP Id: rs2071373150

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224345del , CM000679.2:g.7224345del GRCh38
NC_000017.10:g.7127664del , CM000679.1:g.7127664del GRCh37
NC_000017.9:g.7068388del NCBI36
NG_007975.1:g.9512del
NG_008391.2:g.706del
NG_033038.1:g.15200del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1557del MANE Select ENSP00000349297.5:p.Ser520ValfsTer10
ENST00000322910.9:c.*1512del ENSP00000325395.5:n.*1512del
ENST00000350303.9:c.1491del ENSP00000344152.5:p.Ser498ValfsTer10
ENST00000356839.9:c.1557del ENSP00000349297.5:p.Ser520ValfsTer10
ENST00000542255.6:c.415del
ENST00000543245.6:c.1626del ENSP00000438689.2:p.Ser543ValfsTer10
ENST00000578319.5:n.52del
ENST00000578711.1:n.841del
ENST00000578809.5:n.129del
ENST00000579391.1:n.165del
ENST00000579425.5:n.673del
ENST00000579546.1:c.296del
ENST00000579894.5:n.344del
ENST00000582450.1:n.65del
ENST00000583074.5:n.178del
ENST00000583850.5:n.332del
ENST00000583858.5:c.488del
ENST00000585203.6:n.748del
NM_000018.3:c.1557del NP_000009.1:p.Ser520ValfsTer10
NM_001033859.2:c.1491del NP_001029031.1:p.Ser498ValfsTer10
NM_001270447.1:c.1626del NP_001257376.1:p.Ser543ValfsTer10
NM_001270448.1:c.1329del NP_001257377.1:p.Ser444ValfsTer10
XM_006721516.2:c.1557del XP_006721579.2:p.Ser520ValfsTer10
XM_011523829.1:c.1459del XP_011522131.1:p.Glu487SerfsTer?
XM_011523830.1:c.1459del XP_011522132.1:p.Glu487SerfsTer?
XR_934021.1:n.1664del
XR_934022.1:n.1566del
XR_934023.1:n.1566del
XM_006721516.3:c.1557del XP_006721579.2:p.Ser520ValfsTer10
XM_011523829.2:c.1459del XP_011522131.1:p.Glu487SerfsTer?
XM_011523830.2:c.1459del XP_011522132.1:p.Glu487SerfsTer?
XM_024450741.1:c.1459del XP_024306509.1:p.Glu487SerfsTer?
XR_934021.2:n.1616del
XR_934022.2:n.1518del
XR_934023.2:n.1518del
NM_000018.4:c.1557del MANE Select NP_000009.1:p.Ser520ValfsTer10
NM_001033859.3:c.1491del NP_001029031.1:p.Ser498ValfsTer10
NM_001270447.2:c.1626del NP_001257376.1:p.Ser543ValfsTer10
NM_001270448.2:c.1329del NP_001257377.1:p.Ser444ValfsTer10