Canonical Allele Identifier: CA2499224903
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1073505
ClinVar RCV Id: RCV001386531
dbSNP Id: rs2142984544

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223712del , CM000679.2:g.7223712del GRCh38
NC_000017.10:g.7127031del , CM000679.1:g.7127031del GRCh37
NC_000017.9:g.7067755del NCBI36
NG_007975.1:g.8879del
NG_008391.2:g.1339del
NG_033038.1:g.15833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1251del MANE Select ENSP00000349297.5:p.Ser418AlafsTer12
ENST00000322910.9:c.*1206del ENSP00000325395.5:n.*1206del
ENST00000350303.9:c.1185del ENSP00000344152.5:p.Ser396AlafsTer12
ENST00000356839.9:c.1251del ENSP00000349297.5:p.Ser418AlafsTer12
ENST00000542255.6:c.109del
ENST00000543245.6:c.1320del ENSP00000438689.2:p.Ser441AlafsTer12
ENST00000578579.2:n.422del
ENST00000578711.1:n.208del
ENST00000578824.5:n.667del
ENST00000579425.5:n.275del
ENST00000579546.1:c.88del
ENST00000583850.5:n.26del
ENST00000583858.5:c.280del
ENST00000585203.6:n.459del
NM_000018.3:c.1251del NP_000009.1:p.Ser418AlafsTer12
NM_001033859.2:c.1185del NP_001029031.1:p.Ser396AlafsTer12
NM_001270447.1:c.1320del NP_001257376.1:p.Ser441AlafsTer12
NM_001270448.1:c.1023del NP_001257377.1:p.Ser342AlafsTer12
XM_006721516.2:c.1251del XP_006721579.2:p.Ser418AlafsTer12
XM_011523829.1:c.1251del XP_011522131.1:p.Ser418AlafsTer12
XM_011523830.1:c.1251del XP_011522132.1:p.Ser418AlafsTer12
XR_934021.1:n.1358del
XR_934022.1:n.1358del
XR_934023.1:n.1358del
XM_006721516.3:c.1251del XP_006721579.2:p.Ser418AlafsTer12
XM_011523829.2:c.1251del XP_011522131.1:p.Ser418AlafsTer12
XM_011523830.2:c.1251del XP_011522132.1:p.Ser418AlafsTer12
XM_024450741.1:c.1251del XP_024306509.1:p.Ser418AlafsTer12
XR_934021.2:n.1310del
XR_934022.2:n.1310del
XR_934023.2:n.1310del
NM_000018.4:c.1251del MANE Select NP_000009.1:p.Ser418AlafsTer12
NM_001033859.3:c.1185del NP_001029031.1:p.Ser396AlafsTer12
NM_001270447.2:c.1320del NP_001257376.1:p.Ser441AlafsTer12
NM_001270448.2:c.1023del NP_001257377.1:p.Ser342AlafsTer12