Canonical Allele Identifier: CA2635780699
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221210_7221214del , CM000679.2:g.7221210_7221214del GRCh38
NC_000017.10:g.7124529_7124533del , CM000679.1:g.7124529_7124533del GRCh37
NC_000017.9:g.7065253_7065257del NCBI36
NG_007975.1:g.6377_6381del
NG_008391.2:g.3839_3843del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.477+152_477+156del MANE Select ENSP00000349297.5:n.477+152_477+156del
ENST00000322910.9:c.*432+152_*432+156del ENSP00000325395.5:n.*432+152_*432+156del
ENST00000350303.9:c.411+152_411+156del ENSP00000344152.5:n.411+152_411+156del
ENST00000356839.9:c.477+152_477+156del ENSP00000349297.5:n.477+152_477+156del
ENST00000543245.6:c.546+152_546+156del ENSP00000438689.2:n.546+152_546+156del
ENST00000577191.5:n.554+152_554+156del
ENST00000577433.5:n.685+152_685+156del
ENST00000577857.5:n.294-328_294-324del
ENST00000579286.5:n.658+152_658+156del
ENST00000579886.2:c.315+152_315+156del ENSP00000463246.1:n.315+152_315+156del
ENST00000580365.1:n.208+152_208+156del
ENST00000581378.5:c.176+152_176+156del
ENST00000581562.5:n.524+152_524+156del
ENST00000582166.1:n.458+152_458+156del
ENST00000583312.5:c.477+152_477+156del ENSP00000467920.1:n.477+152_477+156del
NM_000018.3:c.477+152_477+156del NP_000009.1:n.477+152_477+156del
NM_001033859.2:c.411+152_411+156del NP_001029031.1:n.411+152_411+156del
NM_001270447.1:c.546+152_546+156del NP_001257376.1:n.546+152_546+156del
NM_001270448.1:c.249+152_249+156del NP_001257377.1:n.249+152_249+156del
XM_006721516.2:c.477+152_477+156del XP_006721579.2:n.477+152_477+156del
XM_011523829.1:c.477+152_477+156del XP_011522131.1:n.477+152_477+156del
XM_011523830.1:c.477+152_477+156del XP_011522132.1:n.477+152_477+156del
XR_934021.1:n.584+152_584+156del
XR_934022.1:n.584+152_584+156del
XR_934023.1:n.584+152_584+156del
XM_006721516.3:c.477+152_477+156del XP_006721579.2:n.477+152_477+156del
XM_011523829.2:c.477+152_477+156del XP_011522131.1:n.477+152_477+156del
XM_011523830.2:c.477+152_477+156del XP_011522132.1:n.477+152_477+156del
XM_024450741.1:c.477+152_477+156del XP_024306509.1:n.477+152_477+156del
XR_934021.2:n.536+152_536+156del
XR_934022.2:n.536+152_536+156del
XR_934023.2:n.536+152_536+156del
NM_000018.4:c.477+152_477+156del MANE Select NP_000009.1:n.477+152_477+156del
NM_001033859.3:c.411+152_411+156del NP_001029031.1:n.411+152_411+156del
NM_001270447.2:c.546+152_546+156del NP_001257376.1:n.546+152_546+156del
NM_001270448.2:c.249+152_249+156del NP_001257377.1:n.249+152_249+156del