Canonical Allele Identifier: CA2635780859
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221328_7221331del , CM000679.2:g.7221328_7221331del GRCh38
NC_000017.10:g.7124647_7124650del , CM000679.1:g.7124647_7124650del GRCh37
NC_000017.9:g.7065371_7065374del NCBI36
NG_007975.1:g.6495_6498del
NG_008391.2:g.3720_3723del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.478-210_478-207del MANE Select ENSP00000349297.5:n.478-210_478-207del
ENST00000322910.9:c.*433-210_*433-207del ENSP00000325395.5:n.*433-210_*433-207del
ENST00000350303.9:c.412-210_412-207del ENSP00000344152.5:n.412-210_412-207del
ENST00000356839.9:c.478-210_478-207del ENSP00000349297.5:n.478-210_478-207del
ENST00000543245.6:c.547-210_547-207del ENSP00000438689.2:n.547-210_547-207del
ENST00000577191.5:n.555-210_555-207del
ENST00000577433.5:n.686-210_686-207del
ENST00000577857.5:n.294-210_294-207del
ENST00000579286.5:n.659-210_659-207del
ENST00000579886.2:c.316-210_316-207del ENSP00000463246.1:n.316-210_316-207del
ENST00000580365.1:n.209-210_209-207del
ENST00000581378.5:c.177-191_177-188del
ENST00000581562.5:n.524+270_524+273del
ENST00000582166.1:n.459-210_459-207del
ENST00000583312.5:c.478-210_478-207del ENSP00000467920.1:n.478-210_478-207del
ENST00000583760.1:n.50_53del
NM_000018.3:c.478-210_478-207del NP_000009.1:n.478-210_478-207del
NM_001033859.2:c.412-210_412-207del NP_001029031.1:n.412-210_412-207del
NM_001270447.1:c.547-210_547-207del NP_001257376.1:n.547-210_547-207del
NM_001270448.1:c.250-210_250-207del NP_001257377.1:n.250-210_250-207del
XM_006721516.2:c.478-210_478-207del XP_006721579.2:n.478-210_478-207del
XM_011523829.1:c.478-210_478-207del XP_011522131.1:n.478-210_478-207del
XM_011523830.1:c.478-210_478-207del XP_011522132.1:n.478-210_478-207del
XR_934021.1:n.585-210_585-207del
XR_934022.1:n.585-210_585-207del
XR_934023.1:n.585-210_585-207del
XM_006721516.3:c.478-210_478-207del XP_006721579.2:n.478-210_478-207del
XM_011523829.2:c.478-210_478-207del XP_011522131.1:n.478-210_478-207del
XM_011523830.2:c.478-210_478-207del XP_011522132.1:n.478-210_478-207del
XM_024450741.1:c.478-210_478-207del XP_024306509.1:n.478-210_478-207del
XR_934021.2:n.537-210_537-207del
XR_934022.2:n.537-210_537-207del
XR_934023.2:n.537-210_537-207del
NM_000018.4:c.478-210_478-207del MANE Select NP_000009.1:n.478-210_478-207del
NM_001033859.3:c.412-210_412-207del NP_001029031.1:n.412-210_412-207del
NM_001270447.2:c.547-210_547-207del NP_001257376.1:n.547-210_547-207del
NM_001270448.2:c.250-210_250-207del NP_001257377.1:n.250-210_250-207del