Canonical Allele Identifier: CA2635781053
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7221421-ACTGCCCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221422_7221428del , CM000679.2:g.7221422_7221428del GRCh38
NC_000017.10:g.7124741_7124747del , CM000679.1:g.7124741_7124747del GRCh37
NC_000017.9:g.7065465_7065471del NCBI36
NG_007975.1:g.6589_6595del
NG_008391.2:g.3623_3629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.478-116_478-110del MANE Select ENSP00000349297.5:n.478-116_478-110del
ENST00000322910.9:c.*433-116_*433-110del ENSP00000325395.5:n.*433-116_*433-110del
ENST00000350303.9:c.412-116_412-110del ENSP00000344152.5:n.412-116_412-110del
ENST00000356839.9:c.478-116_478-110del ENSP00000349297.5:n.478-116_478-110del
ENST00000543245.6:c.547-116_547-110del ENSP00000438689.2:n.547-116_547-110del
ENST00000577191.5:n.555-116_555-110del
ENST00000577433.5:n.686-116_686-110del
ENST00000577857.5:n.294-116_294-110del
ENST00000579286.5:n.659-116_659-110del
ENST00000579886.2:c.316-116_316-110del ENSP00000463246.1:n.316-116_316-110del
ENST00000580365.1:n.209-116_209-110del
ENST00000581378.5:c.177-97_177-91del
ENST00000581562.5:n.524+364_524+370del
ENST00000582166.1:n.459-116_459-110del
ENST00000583312.5:c.478-116_478-110del ENSP00000467920.1:n.478-116_478-110del
ENST00000583760.1:n.144_150del
NM_000018.3:c.478-116_478-110del NP_000009.1:n.478-116_478-110del
NM_001033859.2:c.412-116_412-110del NP_001029031.1:n.412-116_412-110del
NM_001270447.1:c.547-116_547-110del NP_001257376.1:n.547-116_547-110del
NM_001270448.1:c.250-116_250-110del NP_001257377.1:n.250-116_250-110del
XM_006721516.2:c.478-116_478-110del XP_006721579.2:n.478-116_478-110del
XM_011523829.1:c.478-116_478-110del XP_011522131.1:n.478-116_478-110del
XM_011523830.1:c.478-116_478-110del XP_011522132.1:n.478-116_478-110del
XR_934021.1:n.585-116_585-110del
XR_934022.1:n.585-116_585-110del
XR_934023.1:n.585-116_585-110del
XM_006721516.3:c.478-116_478-110del XP_006721579.2:n.478-116_478-110del
XM_011523829.2:c.478-116_478-110del XP_011522131.1:n.478-116_478-110del
XM_011523830.2:c.478-116_478-110del XP_011522132.1:n.478-116_478-110del
XM_024450741.1:c.478-116_478-110del XP_024306509.1:n.478-116_478-110del
XR_934021.2:n.537-116_537-110del
XR_934022.2:n.537-116_537-110del
XR_934023.2:n.537-116_537-110del
NM_000018.4:c.478-116_478-110del MANE Select NP_000009.1:n.478-116_478-110del
NM_001033859.3:c.412-116_412-110del NP_001029031.1:n.412-116_412-110del
NM_001270447.2:c.547-116_547-110del NP_001257376.1:n.547-116_547-110del
NM_001270448.2:c.250-116_250-110del NP_001257377.1:n.250-116_250-110del
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