Canonical Allele Identifier: CA2245712011
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223853_7223854delinsTG , CM000679.2:g.7223853_7223854delinsTG GRCh38
NC_000017.10:g.7127172_7127173delinsTG , CM000679.1:g.7127172_7127173delinsTG GRCh37
NC_000017.9:g.7067896_7067897delinsTG NCBI36
NG_007975.1:g.9020_9021delinsTG
NG_008391.2:g.1197_1198delinsCA
NG_033038.1:g.15691_15692delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1310_1311delinsTG MANE Select ENSP00000349297.5:p.Met437=
ENST00000322910.9:c.*1265_*1266delinsTG ENSP00000325395.5:n.*1265_*1266delinsTG
ENST00000350303.9:c.1244_1245delinsTG ENSP00000344152.5:p.Met415=
ENST00000356839.9:c.1310_1311delinsTG ENSP00000349297.5:p.Met437=
ENST00000542255.6:c.168_169delinsTG
ENST00000543245.6:c.1379_1380delinsTG ENSP00000438689.2:p.Met460=
ENST00000578711.1:n.349_350delinsTG
ENST00000579425.5:n.334_335delinsTG
ENST00000579546.1:c.147_148delinsTG
ENST00000583074.5:n.29_30delinsTG
ENST00000583850.5:n.85_86delinsTG
ENST00000583858.5:c.339_340delinsTG
ENST00000585203.6:n.518_519delinsTG
NM_000018.3:c.1310_1311delinsTG NP_000009.1:p.Met437=
NM_001033859.2:c.1244_1245delinsTG NP_001029031.1:p.Met415=
NM_001270447.1:c.1379_1380delinsTG NP_001257376.1:p.Met460=
NM_001270448.1:c.1082_1083delinsTG NP_001257377.1:p.Met361=
XM_006721516.2:c.1310_1311delinsTG XP_006721579.2:p.Met437=
XM_011523829.1:c.1310_1311delinsTG XP_011522131.1:p.Met437=
XM_011523830.1:c.1310_1311delinsTG XP_011522132.1:p.Met437=
XR_934021.1:n.1417_1418delinsTG
XR_934022.1:n.1417_1418delinsTG
XR_934023.1:n.1417_1418delinsTG
XM_006721516.3:c.1310_1311delinsTG XP_006721579.2:p.Met437=
XM_011523829.2:c.1310_1311delinsTG XP_011522131.1:p.Met437=
XM_011523830.2:c.1310_1311delinsTG XP_011522132.1:p.Met437=
XM_024450741.1:c.1310_1311delinsTG XP_024306509.1:p.Met437=
XR_934021.2:n.1369_1370delinsTG
XR_934022.2:n.1369_1370delinsTG
XR_934023.2:n.1369_1370delinsTG
NM_000018.4:c.1310_1311delinsTG MANE Select NP_000009.1:p.Met437=
NM_001033859.3:c.1244_1245delinsTG NP_001029031.1:p.Met415=
NM_001270447.2:c.1379_1380delinsTG NP_001257376.1:p.Met460=
NM_001270448.2:c.1082_1083delinsTG NP_001257377.1:p.Met361=