Canonical Allele Identifier: CA287435931
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1054411507
gnomAD v3: 17-7221383-ACTT-A
gnomAD v4: 17-7221383-ACTT-A
MyVariant Identifiers: chr17:g.7124703_7124705del (hg19) chr17:g.7221384_7221386del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221387_7221389del , CM000679.2:g.7221387_7221389del GRCh38
NC_000017.10:g.7124706_7124708del , CM000679.1:g.7124706_7124708del GRCh37
NC_000017.9:g.7065430_7065432del NCBI36
NG_007975.1:g.6554_6556del
NG_008391.2:g.3665_3667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.478-151_478-149del MANE Select ENSP00000349297.5:n.478-151_478-149del
ENST00000322910.9:c.*433-151_*433-149del ENSP00000325395.5:n.*433-151_*433-149del
ENST00000350303.9:c.412-151_412-149del ENSP00000344152.5:n.412-151_412-149del
ENST00000356839.9:c.478-151_478-149del ENSP00000349297.5:n.478-151_478-149del
ENST00000543245.6:c.547-151_547-149del ENSP00000438689.2:n.547-151_547-149del
ENST00000577191.5:n.555-151_555-149del
ENST00000577433.5:n.686-151_686-149del
ENST00000577857.5:n.294-151_294-149del
ENST00000579286.5:n.659-151_659-149del
ENST00000579886.2:c.316-151_316-149del ENSP00000463246.1:n.316-151_316-149del
ENST00000580365.1:n.209-151_209-149del
ENST00000581378.5:c.177-132_177-130del
ENST00000581562.5:n.524+329_524+331del
ENST00000582166.1:n.459-151_459-149del
ENST00000583312.5:c.478-151_478-149del ENSP00000467920.1:n.478-151_478-149del
ENST00000583760.1:n.109_111del
NM_000018.3:c.478-151_478-149del NP_000009.1:n.478-151_478-149del
NM_001033859.2:c.412-151_412-149del NP_001029031.1:n.412-151_412-149del
NM_001270447.1:c.547-151_547-149del NP_001257376.1:n.547-151_547-149del
NM_001270448.1:c.250-151_250-149del NP_001257377.1:n.250-151_250-149del
XM_006721516.2:c.478-151_478-149del XP_006721579.2:n.478-151_478-149del
XM_011523829.1:c.478-151_478-149del XP_011522131.1:n.478-151_478-149del
XM_011523830.1:c.478-151_478-149del XP_011522132.1:n.478-151_478-149del
XR_934021.1:n.585-151_585-149del
XR_934022.1:n.585-151_585-149del
XR_934023.1:n.585-151_585-149del
XM_006721516.3:c.478-151_478-149del XP_006721579.2:n.478-151_478-149del
XM_011523829.2:c.478-151_478-149del XP_011522131.1:n.478-151_478-149del
XM_011523830.2:c.478-151_478-149del XP_011522132.1:n.478-151_478-149del
XM_024450741.1:c.478-151_478-149del XP_024306509.1:n.478-151_478-149del
XR_934021.2:n.537-151_537-149del
XR_934022.2:n.537-151_537-149del
XR_934023.2:n.537-151_537-149del
NM_000018.4:c.478-151_478-149del MANE Select NP_000009.1:n.478-151_478-149del
NM_001033859.3:c.412-151_412-149del NP_001029031.1:n.412-151_412-149del
NM_001270447.2:c.547-151_547-149del NP_001257376.1:n.547-151_547-149del
NM_001270448.2:c.250-151_250-149del NP_001257377.1:n.250-151_250-149del
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