Canonical Allele Identifier: CA2808365853
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221436_7221438del , CM000679.2:g.7221436_7221438del GRCh38
NC_000017.10:g.7124755_7124757del , CM000679.1:g.7124755_7124757del GRCh37
NC_000017.9:g.7065479_7065481del NCBI36
NG_007975.1:g.6603_6605del
NG_008391.2:g.3613_3615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.478-102_478-100del MANE Select ENSP00000349297.5:n.478-102_478-100del
ENST00000322910.9:c.*433-102_*433-100del ENSP00000325395.5:n.*433-102_*433-100del
ENST00000350303.9:c.412-102_412-100del ENSP00000344152.5:n.412-102_412-100del
ENST00000356839.9:c.478-102_478-100del ENSP00000349297.5:n.478-102_478-100del
ENST00000543245.6:c.547-102_547-100del ENSP00000438689.2:n.547-102_547-100del
ENST00000577191.5:n.555-102_555-100del
ENST00000577433.5:n.686-102_686-100del
ENST00000577857.5:n.294-102_294-100del
ENST00000579286.5:n.659-102_659-100del
ENST00000579886.2:c.316-102_316-100del ENSP00000463246.1:n.316-102_316-100del
ENST00000580365.1:n.209-102_209-100del
ENST00000581378.5:c.177-83_177-81del
ENST00000581562.5:n.524+378_524+380del
ENST00000582166.1:n.459-102_459-100del
ENST00000583312.5:c.478-102_478-100del ENSP00000467920.1:n.478-102_478-100del
ENST00000583760.1:n.158_160del
NM_000018.3:c.478-102_478-100del NP_000009.1:n.478-102_478-100del
NM_001033859.2:c.412-102_412-100del NP_001029031.1:n.412-102_412-100del
NM_001270447.1:c.547-102_547-100del NP_001257376.1:n.547-102_547-100del
NM_001270448.1:c.250-102_250-100del NP_001257377.1:n.250-102_250-100del
XM_006721516.2:c.478-102_478-100del XP_006721579.2:n.478-102_478-100del
XM_011523829.1:c.478-102_478-100del XP_011522131.1:n.478-102_478-100del
XM_011523830.1:c.478-102_478-100del XP_011522132.1:n.478-102_478-100del
XR_934021.1:n.585-102_585-100del
XR_934022.1:n.585-102_585-100del
XR_934023.1:n.585-102_585-100del
XM_006721516.3:c.478-102_478-100del XP_006721579.2:n.478-102_478-100del
XM_011523829.2:c.478-102_478-100del XP_011522131.1:n.478-102_478-100del
XM_011523830.2:c.478-102_478-100del XP_011522132.1:n.478-102_478-100del
XM_024450741.1:c.478-102_478-100del XP_024306509.1:n.478-102_478-100del
XR_934021.2:n.537-102_537-100del
XR_934022.2:n.537-102_537-100del
XR_934023.2:n.537-102_537-100del
NM_000018.4:c.478-102_478-100del MANE Select NP_000009.1:n.478-102_478-100del
NM_001033859.3:c.412-102_412-100del NP_001029031.1:n.412-102_412-100del
NM_001270447.2:c.547-102_547-100del NP_001257376.1:n.547-102_547-100del
NM_001270448.2:c.250-102_250-100del NP_001257377.1:n.250-102_250-100del