Canonical Allele Identifier: CA923726371
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223706_7223727del , CM000679.2:g.7223706_7223727del GRCh38
NC_000017.10:g.7127025_7127046del , CM000679.1:g.7127025_7127046del GRCh37
NC_000017.9:g.7067749_7067770del NCBI36
NG_007975.1:g.8873_8894del
NG_008391.2:g.1327_1348del
NG_033038.1:g.15821_15842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1245_1266del MANE Select ENSP00000349297.5:p.Ala416ArgfsTer7
ENST00000322910.9:c.*1200_*1221del ENSP00000325395.5:n.*1200_*1221del
ENST00000350303.9:c.1179_1200del ENSP00000344152.5:p.Ala394ArgfsTer7
ENST00000356839.9:c.1245_1266del ENSP00000349297.5:p.Ala416ArgfsTer7
ENST00000542255.6:c.103_124del
ENST00000543245.6:c.1314_1335del ENSP00000438689.2:p.Ala439ArgfsTer7
ENST00000578579.2:n.416_437del
ENST00000578711.1:n.202_223del
ENST00000578824.5:n.661_682del
ENST00000579425.5:n.269_290del
ENST00000579546.1:c.82_103del
ENST00000583850.5:n.20_41del
ENST00000583858.5:c.274_295del
ENST00000585203.6:n.453_474del
NM_000018.3:c.1245_1266del NP_000009.1:p.Ala416ArgfsTer7
NM_001033859.2:c.1179_1200del NP_001029031.1:p.Ala394ArgfsTer7
NM_001270447.1:c.1314_1335del NP_001257376.1:p.Ala439ArgfsTer7
NM_001270448.1:c.1017_1038del NP_001257377.1:p.Ala340ArgfsTer7
XM_006721516.2:c.1245_1266del XP_006721579.2:p.Ala416ArgfsTer7
XM_011523829.1:c.1245_1266del XP_011522131.1:p.Ala416ArgfsTer7
XM_011523830.1:c.1245_1266del XP_011522132.1:p.Ala416ArgfsTer7
XR_934021.1:n.1352_1373del
XR_934022.1:n.1352_1373del
XR_934023.1:n.1352_1373del
XM_006721516.3:c.1245_1266del XP_006721579.2:p.Ala416ArgfsTer7
XM_011523829.2:c.1245_1266del XP_011522131.1:p.Ala416ArgfsTer7
XM_011523830.2:c.1245_1266del XP_011522132.1:p.Ala416ArgfsTer7
XM_024450741.1:c.1245_1266del XP_024306509.1:p.Ala416ArgfsTer7
XR_934021.2:n.1304_1325del
XR_934022.2:n.1304_1325del
XR_934023.2:n.1304_1325del
NM_000018.4:c.1245_1266del MANE Select NP_000009.1:p.Ala416ArgfsTer7
NM_001033859.3:c.1179_1200del NP_001029031.1:p.Ala394ArgfsTer7
NM_001270447.2:c.1314_1335del NP_001257376.1:p.Ala439ArgfsTer7
NM_001270448.2:c.1017_1038del NP_001257377.1:p.Ala340ArgfsTer7