Canonical Allele Identifier: CA624860823
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 551060
ClinVar RCV Id: RCV000666022
dbSNP Id: rs1555528999

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224637del , CM000679.2:g.7224637del GRCh38
NC_000017.10:g.7127956del , CM000679.1:g.7127956del GRCh37
NC_000017.9:g.7068680del NCBI36
NG_007975.1:g.9804del
NG_008391.2:g.415del
NG_033038.1:g.14909del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1679-5del MANE Select ENSP00000349297.5:n.1679-5del
ENST00000322910.9:c.*1634-5del ENSP00000325395.5:n.*1634-5del
ENST00000350303.9:c.1613-5del ENSP00000344152.5:n.1613-5del
ENST00000356839.9:c.1679-5del ENSP00000349297.5:n.1679-5del
ENST00000542255.6:c.537-78del
ENST00000543245.6:c.1748-5del ENSP00000438689.2:n.1748-5del
ENST00000578033.1:n.5del
ENST00000578319.5:n.260-5del
ENST00000578711.1:n.1133del
ENST00000578809.5:n.251-5del
ENST00000579425.5:n.795-5del
ENST00000579546.1:c.414-5del
ENST00000582450.1:n.271del
ENST00000583074.5:n.300-78del
ENST00000583848.5:c.65-25del ENSP00000466487.1:n.65-25del
ENST00000583850.5:n.450-5del
ENST00000583858.5:c.610-5del
ENST00000585203.6:n.870-5del
NM_000018.3:c.1679-5del NP_000009.1:n.1679-5del
NM_001033859.2:c.1613-5del NP_001029031.1:n.1613-5del
NM_001270447.1:c.1748-5del NP_001257376.1:n.1748-5del
NM_001270448.1:c.1451-5del NP_001257377.1:n.1451-5del
XM_006721516.2:c.1679-78del XP_006721579.2:n.1679-78del
XM_011523829.1:c.1577-78del XP_011522131.1:n.1577-78del
XM_011523830.1:c.1577-5del XP_011522132.1:n.1577-5del
XR_934021.1:n.1782-5del
XR_934022.1:n.1688-5del
XR_934023.1:n.1688-78del
XM_006721516.3:c.1679-78del XP_006721579.2:n.1679-78del
XM_011523829.2:c.1577-78del XP_011522131.1:n.1577-78del
XM_011523830.2:c.1577-5del XP_011522132.1:n.1577-5del
XM_024450741.1:c.1667-5del XP_024306509.1:n.1667-5del
XR_934021.2:n.1734-5del
XR_934022.2:n.1640-5del
XR_934023.2:n.1640-78del
NM_000018.4:c.1679-5del MANE Select NP_000009.1:n.1679-5del
NM_001033859.3:c.1613-5del NP_001029031.1:n.1613-5del
NM_001270447.2:c.1748-5del NP_001257376.1:n.1748-5del
NM_001270448.2:c.1451-5del NP_001257377.1:n.1451-5del