Canonical Allele Identifier: CA2245714812
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224606_7224612delinsGCCCCCA , CM000679.2:g.7224606_7224612delinsGCCCCCA GRCh38
NC_000017.10:g.7127925_7127931delinsGCCCCCA , CM000679.1:g.7127925_7127931delinsGCCCCCA GRCh37
NC_000017.9:g.7068649_7068655delinsGCCCCCA NCBI36
NG_007975.1:g.9773_9779delinsGCCCCCA
NG_008391.2:g.439_445delinsTGGGGGC
NG_033038.1:g.14933_14939delinsTGGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1679-36_1679-30delinsGCCCCCA MANE Select ENSP00000349297.5:n.1679-36_1679-30delinsGCCCCCA
ENST00000322910.9:c.*1634-36_*1634-30delinsGCCCCCA ENSP00000325395.5:n.*1634-36_*1634-30delinsGCCCCCA
ENST00000350303.9:c.1613-36_1613-30delinsGCCCCCA ENSP00000344152.5:n.1613-36_1613-30delinsGCCCCCA
ENST00000356839.9:c.1679-36_1679-30delinsGCCCCCA ENSP00000349297.5:n.1679-36_1679-30delinsGCCCCCA
ENST00000542255.6:c.536+54_536+60delinsGCCCCCA
ENST00000543245.6:c.1748-36_1748-30delinsGCCCCCA ENSP00000438689.2:n.1748-36_1748-30delinsGCCCCCA
ENST00000578319.5:n.260-36_260-30delinsGCCCCCA
ENST00000578711.1:n.1102_1108delinsGCCCCCA
ENST00000578809.5:n.251-36_251-30delinsGCCCCCA
ENST00000579425.5:n.795-36_795-30delinsGCCCCCA
ENST00000579546.1:c.414-36_414-30delinsGCCCCCA
ENST00000582450.1:n.240_246delinsGCCCCCA
ENST00000583074.5:n.299+54_299+60delinsGCCCCCA
ENST00000583848.5:c.64+54_65-50delinsGCCCCCA ENSP00000466487.1:n.64+54_65-50delinsGCCCCCA
ENST00000583850.5:n.450-36_450-30delinsGCCCCCA
ENST00000583858.5:c.610-36_610-30delinsGCCCCCA
ENST00000585203.6:n.870-36_870-30delinsGCCCCCA
NM_000018.3:c.1679-36_1679-30delinsGCCCCCA NP_000009.1:n.1679-36_1679-30delinsGCCCCCA
NM_001033859.2:c.1613-36_1613-30delinsGCCCCCA NP_001029031.1:n.1613-36_1613-30delinsGCCCCCA
NM_001270447.1:c.1748-36_1748-30delinsGCCCCCA NP_001257376.1:n.1748-36_1748-30delinsGCCCCCA
NM_001270448.1:c.1451-36_1451-30delinsGCCCCCA NP_001257377.1:n.1451-36_1451-30delinsGCCCCCA
XM_006721516.2:c.1678+54_1678+60delinsGCCCCCA XP_006721579.2:n.1678+54_1678+60delinsGCCCCCA
XM_011523829.1:c.1576+54_1576+60delinsGCCCCCA XP_011522131.1:n.1576+54_1576+60delinsGCCCCCA
XM_011523830.1:c.1577-36_1577-30delinsGCCCCCA XP_011522132.1:n.1577-36_1577-30delinsGCCCCCA
XR_934021.1:n.1782-36_1782-30delinsGCCCCCA
XR_934022.1:n.1688-36_1688-30delinsGCCCCCA
XR_934023.1:n.1687+54_1687+60delinsGCCCCCA
XM_006721516.3:c.1678+54_1678+60delinsGCCCCCA XP_006721579.2:n.1678+54_1678+60delinsGCCCCCA
XM_011523829.2:c.1576+54_1576+60delinsGCCCCCA XP_011522131.1:n.1576+54_1576+60delinsGCCCCCA
XM_011523830.2:c.1577-36_1577-30delinsGCCCCCA XP_011522132.1:n.1577-36_1577-30delinsGCCCCCA
XM_024450741.1:c.1667-36_1667-30delinsGCCCCCA XP_024306509.1:n.1667-36_1667-30delinsGCCCCCA
XR_934021.2:n.1734-36_1734-30delinsGCCCCCA
XR_934022.2:n.1640-36_1640-30delinsGCCCCCA
XR_934023.2:n.1639+54_1639+60delinsGCCCCCA
NM_000018.4:c.1679-36_1679-30delinsGCCCCCA MANE Select NP_000009.1:n.1679-36_1679-30delinsGCCCCCA
NM_001033859.3:c.1613-36_1613-30delinsGCCCCCA NP_001029031.1:n.1613-36_1613-30delinsGCCCCCA
NM_001270447.2:c.1748-36_1748-30delinsGCCCCCA NP_001257376.1:n.1748-36_1748-30delinsGCCCCCA
NM_001270448.2:c.1451-36_1451-30delinsGCCCCCA NP_001257377.1:n.1451-36_1451-30delinsGCCCCCA