Canonical Allele Identifier: CA916084367
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1806485
ClinVar RCV Id: RCV002472387
ERepo: CA916084367/MONDO:0008723/021
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224477_7224478del , CM000679.2:g.7224477_7224478del GRCh38
NC_000017.10:g.7127796_7127797del , CM000679.1:g.7127796_7127797del GRCh37
NC_000017.9:g.7068520_7068521del NCBI36
NG_007975.1:g.9644_9645del
NG_008391.2:g.573_574del
NG_033038.1:g.15067_15068del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1606-3_1606-2del MANE Select ENSP00000349297.5:n.1606-3_1606-2del
ENST00000322910.9:c.*1561-3_*1561-2del ENSP00000325395.5:n.*1561-3_*1561-2del
ENST00000350303.9:c.1540-3_1540-2del ENSP00000344152.5:n.1540-3_1540-2del
ENST00000356839.9:c.1606-3_1606-2del ENSP00000349297.5:n.1606-3_1606-2del
ENST00000542255.6:c.464-3_464-2del
ENST00000543245.6:c.1675-3_1675-2del ENSP00000438689.2:n.1675-3_1675-2del
ENST00000578319.5:n.184_185del
ENST00000578711.1:n.973_974del
ENST00000578809.5:n.178-3_178-2del
ENST00000579391.1:n.214-7_214-6del
ENST00000579425.5:n.722-3_722-2del
ENST00000579546.1:c.345-7_345-6del
ENST00000579894.5:n.393-3_393-2del
ENST00000582450.1:n.114-3_114-2del
ENST00000583074.5:n.227-3_227-2del
ENST00000583850.5:n.381-7_381-6del
ENST00000583858.5:c.537-3_537-2del
ENST00000585203.6:n.797-3_797-2del
NM_000018.3:c.1606-3_1606-2del NP_000009.1:n.1606-3_1606-2del
NM_001033859.2:c.1540-3_1540-2del NP_001029031.1:n.1540-3_1540-2del
NM_001270447.1:c.1675-3_1675-2del NP_001257376.1:n.1675-3_1675-2del
NM_001270448.1:c.1378-3_1378-2del NP_001257377.1:n.1378-3_1378-2del
XM_006721516.2:c.1606-3_1606-2del XP_006721579.2:n.1606-3_1606-2del
XM_011523829.1:c.1508-7_1508-6del XP_011522131.1:n.1508-7_1508-6del
XM_011523830.1:c.1508-7_1508-6del XP_011522132.1:n.1508-7_1508-6del
XR_934021.1:n.1713-7_1713-6del
XR_934022.1:n.1615-3_1615-2del
XR_934023.1:n.1615-3_1615-2del
XM_006721516.3:c.1606-3_1606-2del XP_006721579.2:n.1606-3_1606-2del
XM_011523829.2:c.1508-7_1508-6del XP_011522131.1:n.1508-7_1508-6del
XM_011523830.2:c.1508-7_1508-6del XP_011522132.1:n.1508-7_1508-6del
XM_024450741.1:c.1591_1592del XP_024306509.1:p.Lys531GlyfsTer26
XR_934021.2:n.1665-7_1665-6del
XR_934022.2:n.1567-3_1567-2del
XR_934023.2:n.1567-3_1567-2del
NM_000018.4:c.1606-3_1606-2del MANE Select NP_000009.1:n.1606-3_1606-2del
NM_001033859.3:c.1540-3_1540-2del NP_001029031.1:n.1540-3_1540-2del
NM_001270447.2:c.1675-3_1675-2del NP_001257376.1:n.1675-3_1675-2del
NM_001270448.2:c.1378-3_1378-2del NP_001257377.1:n.1378-3_1378-2del
Search 100 bp 5'
Search 100 bp 3'