Canonical Allele Identifier: CA2635781142
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221440_7221454del , CM000679.2:g.7221440_7221454del GRCh38
NC_000017.10:g.7124759_7124773del , CM000679.1:g.7124759_7124773del GRCh37
NC_000017.9:g.7065483_7065497del NCBI36
NG_007975.1:g.6607_6621del
NG_008391.2:g.3597_3611del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-98_478-84del MANE Select ENSP00000349297.5:n.478-98_478-84del
ENST00000322910.9:c.*433-98_*433-84del ENSP00000325395.5:n.*433-98_*433-84del
ENST00000350303.9:c.412-98_412-84del ENSP00000344152.5:n.412-98_412-84del
ENST00000356839.9:c.478-98_478-84del ENSP00000349297.5:n.478-98_478-84del
ENST00000543245.6:c.547-98_547-84del ENSP00000438689.2:n.547-98_547-84del
ENST00000577191.5:n.555-98_555-84del
ENST00000577433.5:n.686-98_686-84del
ENST00000577857.5:n.294-98_294-84del
ENST00000579286.5:n.659-98_659-84del
ENST00000579886.2:c.316-98_316-84del ENSP00000463246.1:n.316-98_316-84del
ENST00000580365.1:n.209-98_209-84del
ENST00000581378.5:c.177-79_177-65del
ENST00000581562.5:n.524+382_524+396del
ENST00000582166.1:n.459-98_459-84del
ENST00000583312.5:c.478-98_478-84del ENSP00000467920.1:n.478-98_478-84del
ENST00000583760.1:n.162_176del
NM_000018.3:c.478-98_478-84del NP_000009.1:n.478-98_478-84del
NM_001033859.2:c.412-98_412-84del NP_001029031.1:n.412-98_412-84del
NM_001270447.1:c.547-98_547-84del NP_001257376.1:n.547-98_547-84del
NM_001270448.1:c.250-98_250-84del NP_001257377.1:n.250-98_250-84del
XM_006721516.2:c.478-98_478-84del XP_006721579.2:n.478-98_478-84del
XM_011523829.1:c.478-98_478-84del XP_011522131.1:n.478-98_478-84del
XM_011523830.1:c.478-98_478-84del XP_011522132.1:n.478-98_478-84del
XR_934021.1:n.585-98_585-84del
XR_934022.1:n.585-98_585-84del
XR_934023.1:n.585-98_585-84del
XM_006721516.3:c.478-98_478-84del XP_006721579.2:n.478-98_478-84del
XM_011523829.2:c.478-98_478-84del XP_011522131.1:n.478-98_478-84del
XM_011523830.2:c.478-98_478-84del XP_011522132.1:n.478-98_478-84del
XM_024450741.1:c.478-98_478-84del XP_024306509.1:n.478-98_478-84del
XR_934021.2:n.537-98_537-84del
XR_934022.2:n.537-98_537-84del
XR_934023.2:n.537-98_537-84del
NM_000018.4:c.478-98_478-84del MANE Select NP_000009.1:n.478-98_478-84del
NM_001033859.3:c.412-98_412-84del NP_001029031.1:n.412-98_412-84del
NM_001270447.2:c.547-98_547-84del NP_001257376.1:n.547-98_547-84del
NM_001270448.2:c.250-98_250-84del NP_001257377.1:n.250-98_250-84del