Canonical Allele Identifier: CA2808367577
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224627_7224628insAA , CM000679.2:g.7224627_7224628insAA GRCh38
NC_000017.10:g.7127946_7127947insAA , CM000679.1:g.7127946_7127947insAA GRCh37
NC_000017.9:g.7068670_7068671insAA NCBI36
NG_007975.1:g.9794_9795insAA
NG_008391.2:g.423_424insTT
NG_033038.1:g.14917_14918insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1679-15_1679-14insAA MANE Select ENSP00000349297.5:n.1679-15_1679-14insAA
ENST00000322910.9:c.*1634-15_*1634-14insAA ENSP00000325395.5:n.*1634-15_*1634-14insAA
ENST00000350303.9:c.1613-15_1613-14insAA ENSP00000344152.5:n.1613-15_1613-14insAA
ENST00000356839.9:c.1679-15_1679-14insAA ENSP00000349297.5:n.1679-15_1679-14insAA
ENST00000542255.6:c.536+75_536+76insAA
ENST00000543245.6:c.1748-15_1748-14insAA ENSP00000438689.2:n.1748-15_1748-14insAA
ENST00000578319.5:n.260-15_260-14insAA
ENST00000578711.1:n.1123_1124insAA
ENST00000578809.5:n.251-15_251-14insAA
ENST00000579425.5:n.795-15_795-14insAA
ENST00000579546.1:c.414-15_414-14insAA
ENST00000582450.1:n.261_262insAA
ENST00000583074.5:n.299+75_299+76insAA
ENST00000583848.5:c.65-35_65-34insAA ENSP00000466487.1:n.65-35_65-34insAA
ENST00000583850.5:n.450-15_450-14insAA
ENST00000583858.5:c.610-15_610-14insAA
ENST00000585203.6:n.870-15_870-14insAA
NM_000018.3:c.1679-15_1679-14insAA NP_000009.1:n.1679-15_1679-14insAA
NM_001033859.2:c.1613-15_1613-14insAA NP_001029031.1:n.1613-15_1613-14insAA
NM_001270447.1:c.1748-15_1748-14insAA NP_001257376.1:n.1748-15_1748-14insAA
NM_001270448.1:c.1451-15_1451-14insAA NP_001257377.1:n.1451-15_1451-14insAA
XM_006721516.2:c.1678+75_1678+76insAA XP_006721579.2:n.1678+75_1678+76insAA
XM_011523829.1:c.1576+75_1576+76insAA XP_011522131.1:n.1576+75_1576+76insAA
XM_011523830.1:c.1577-15_1577-14insAA XP_011522132.1:n.1577-15_1577-14insAA
XR_934021.1:n.1782-15_1782-14insAA
XR_934022.1:n.1688-15_1688-14insAA
XR_934023.1:n.1687+75_1687+76insAA
XM_006721516.3:c.1678+75_1678+76insAA XP_006721579.2:n.1678+75_1678+76insAA
XM_011523829.2:c.1576+75_1576+76insAA XP_011522131.1:n.1576+75_1576+76insAA
XM_011523830.2:c.1577-15_1577-14insAA XP_011522132.1:n.1577-15_1577-14insAA
XM_024450741.1:c.1667-15_1667-14insAA XP_024306509.1:n.1667-15_1667-14insAA
XR_934021.2:n.1734-15_1734-14insAA
XR_934022.2:n.1640-15_1640-14insAA
XR_934023.2:n.1639+75_1639+76insAA
NM_000018.4:c.1679-15_1679-14insAA MANE Select NP_000009.1:n.1679-15_1679-14insAA
NM_001033859.3:c.1613-15_1613-14insAA NP_001029031.1:n.1613-15_1613-14insAA
NM_001270447.2:c.1748-15_1748-14insAA NP_001257376.1:n.1748-15_1748-14insAA
NM_001270448.2:c.1451-15_1451-14insAA NP_001257377.1:n.1451-15_1451-14insAA