Canonical Allele Identifier: CA2635786331
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224636_7224638del , CM000679.2:g.7224636_7224638del GRCh38
NC_000017.10:g.7127955_7127957del , CM000679.1:g.7127955_7127957del GRCh37
NC_000017.9:g.7068679_7068681del NCBI36
NG_007975.1:g.9803_9805del
NG_008391.2:g.413_415del
NG_033038.1:g.14907_14909del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1679-6_1679-4del MANE Select ENSP00000349297.5:n.1679-6_1679-4del
ENST00000322910.9:c.*1634-6_*1634-4del ENSP00000325395.5:n.*1634-6_*1634-4del
ENST00000350303.9:c.1613-6_1613-4del ENSP00000344152.5:n.1613-6_1613-4del
ENST00000356839.9:c.1679-6_1679-4del ENSP00000349297.5:n.1679-6_1679-4del
ENST00000542255.6:c.537-79_537-77del
ENST00000543245.6:c.1748-6_1748-4del ENSP00000438689.2:n.1748-6_1748-4del
ENST00000578033.1:n.4_6del
ENST00000578319.5:n.260-6_260-4del
ENST00000578711.1:n.1132_1134del
ENST00000578809.5:n.251-6_251-4del
ENST00000579425.5:n.795-6_795-4del
ENST00000579546.1:c.414-6_414-4del
ENST00000582450.1:n.270_272del
ENST00000583074.5:n.300-79_300-77del
ENST00000583848.5:c.65-26_65-24del ENSP00000466487.1:n.65-26_65-24del
ENST00000583850.5:n.450-6_450-4del
ENST00000583858.5:c.610-6_610-4del
ENST00000585203.6:n.870-6_870-4del
NM_000018.3:c.1679-6_1679-4del NP_000009.1:n.1679-6_1679-4del
NM_001033859.2:c.1613-6_1613-4del NP_001029031.1:n.1613-6_1613-4del
NM_001270447.1:c.1748-6_1748-4del NP_001257376.1:n.1748-6_1748-4del
NM_001270448.1:c.1451-6_1451-4del NP_001257377.1:n.1451-6_1451-4del
XM_006721516.2:c.1679-79_1679-77del XP_006721579.2:n.1679-79_1679-77del
XM_011523829.1:c.1577-79_1577-77del XP_011522131.1:n.1577-79_1577-77del
XM_011523830.1:c.1577-6_1577-4del XP_011522132.1:n.1577-6_1577-4del
XR_934021.1:n.1782-6_1782-4del
XR_934022.1:n.1688-6_1688-4del
XR_934023.1:n.1688-79_1688-77del
XM_006721516.3:c.1679-79_1679-77del XP_006721579.2:n.1679-79_1679-77del
XM_011523829.2:c.1577-79_1577-77del XP_011522131.1:n.1577-79_1577-77del
XM_011523830.2:c.1577-6_1577-4del XP_011522132.1:n.1577-6_1577-4del
XM_024450741.1:c.1667-6_1667-4del XP_024306509.1:n.1667-6_1667-4del
XR_934021.2:n.1734-6_1734-4del
XR_934022.2:n.1640-6_1640-4del
XR_934023.2:n.1640-79_1640-77del
NM_000018.4:c.1679-6_1679-4del MANE Select NP_000009.1:n.1679-6_1679-4del
NM_001033859.3:c.1613-6_1613-4del NP_001029031.1:n.1613-6_1613-4del
NM_001270447.2:c.1748-6_1748-4del NP_001257376.1:n.1748-6_1748-4del
NM_001270448.2:c.1451-6_1451-4del NP_001257377.1:n.1451-6_1451-4del