Canonical Allele Identifier: CA2558655469
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223798_7223799insGGGTGT , CM000679.2:g.7223798_7223799insGGGTGT GRCh38
NC_000017.10:g.7127117_7127118insGGGTGT , CM000679.1:g.7127117_7127118insGGGTGT GRCh37
NC_000017.9:g.7067841_7067842insGGGTGT NCBI36
NG_007975.1:g.8965_8966insGGGTGT
NG_008391.2:g.1252_1253insACACCC
NG_033038.1:g.15746_15747insACACCC

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1270-15_1270-14insGGGTGT MANE Select ENSP00000349297.5:n.1270-15_1270-14insGGGTGT
ENST00000322910.9:c.*1225-15_*1225-14insGGGTGT ENSP00000325395.5:n.*1225-15_*1225-14insGGGTGT
ENST00000350303.9:c.1204-15_1204-14insGGGTGT ENSP00000344152.5:n.1204-15_1204-14insGGGTGT
ENST00000356839.9:c.1270-15_1270-14insGGGTGT ENSP00000349297.5:n.1270-15_1270-14insGGGTGT
ENST00000542255.6:c.128-15_128-14insGGGTGT
ENST00000543245.6:c.1339-15_1339-14insGGGTGT ENSP00000438689.2:n.1339-15_1339-14insGGGTGT
ENST00000578579.2:n.441-15_441-14insGGGTGT
ENST00000578711.1:n.294_295insGGGTGT
ENST00000578824.5:n.686-15_686-14insGGGTGT
ENST00000579425.5:n.294-15_294-14insGGGTGT
ENST00000579546.1:c.107-15_107-14insGGGTGT
ENST00000583850.5:n.45-15_45-14insGGGTGT
ENST00000583858.5:c.299-15_299-14insGGGTGT
ENST00000585203.6:n.478-15_478-14insGGGTGT
NM_000018.3:c.1270-15_1270-14insGGGTGT NP_000009.1:n.1270-15_1270-14insGGGTGT
NM_001033859.2:c.1204-15_1204-14insGGGTGT NP_001029031.1:n.1204-15_1204-14insGGGTGT
NM_001270447.1:c.1339-15_1339-14insGGGTGT NP_001257376.1:n.1339-15_1339-14insGGGTGT
NM_001270448.1:c.1042-15_1042-14insGGGTGT NP_001257377.1:n.1042-15_1042-14insGGGTGT
XM_006721516.2:c.1270-15_1270-14insGGGTGT XP_006721579.2:n.1270-15_1270-14insGGGTGT
XM_011523829.1:c.1270-15_1270-14insGGGTGT XP_011522131.1:n.1270-15_1270-14insGGGTGT
XM_011523830.1:c.1270-15_1270-14insGGGTGT XP_011522132.1:n.1270-15_1270-14insGGGTGT
XR_934021.1:n.1377-15_1377-14insGGGTGT
XR_934022.1:n.1377-15_1377-14insGGGTGT
XR_934023.1:n.1377-15_1377-14insGGGTGT
XM_006721516.3:c.1270-15_1270-14insGGGTGT XP_006721579.2:n.1270-15_1270-14insGGGTGT
XM_011523829.2:c.1270-15_1270-14insGGGTGT XP_011522131.1:n.1270-15_1270-14insGGGTGT
XM_011523830.2:c.1270-15_1270-14insGGGTGT XP_011522132.1:n.1270-15_1270-14insGGGTGT
XM_024450741.1:c.1270-15_1270-14insGGGTGT XP_024306509.1:n.1270-15_1270-14insGGGTGT
XR_934021.2:n.1329-15_1329-14insGGGTGT
XR_934022.2:n.1329-15_1329-14insGGGTGT
XR_934023.2:n.1329-15_1329-14insGGGTGT
NM_000018.4:c.1270-15_1270-14insGGGTGT MANE Select NP_000009.1:n.1270-15_1270-14insGGGTGT
NM_001033859.3:c.1204-15_1204-14insGGGTGT NP_001029031.1:n.1204-15_1204-14insGGGTGT
NM_001270447.2:c.1339-15_1339-14insGGGTGT NP_001257376.1:n.1339-15_1339-14insGGGTGT
NM_001270448.2:c.1042-15_1042-14insGGGTGT NP_001257377.1:n.1042-15_1042-14insGGGTGT