Canonical Allele Identifier: CA2275766742
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75960159_75960160del , CM000679.2:g.75960159_75960160del GRCh38
NC_000017.10:g.73956240_73956241del , CM000679.1:g.73956240_73956241del GRCh37
NC_000017.9:g.71467835_71467836del NCBI36
NG_008190.1:g.24208_24209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301608.9:c.431-2590_431-2589del ENSP00000301608.4:n.431-2590_431-2589del
ENST00000293217.10:c.430+59_430+60del MANE Select ENSP00000293217.4:n.430+59_430+60del
ENST00000293217.9:c.430+59_430+60del ENSP00000293217.4:n.430+59_430+60del
ENST00000301608.8:c.431-2590_431-2589del ENSP00000301608.4:n.431-2590_431-2589del
ENST00000572047.5:c.604+59_604+60del ENSP00000459936.1:n.604+59_604+60del
ENST00000573078.5:c.591+59_591+60del ENSP00000458325.1:n.591+59_591+60del
ENST00000588176.5:c.431-4209_431-4208del ENSP00000466210.1:n.431-4209_431-4208del
ENST00000589301.1:c.*228-2590_*228-2589del ENSP00000468435.1:n.*228-2590_*228-2589del
ENST00000591857.5:n.448+59_448+60del
NM_001185039.1:c.316+59_316+60del NP_001171968.1:n.316+59_316+60del
NM_004035.6:c.430+59_430+60del NP_004026.2:n.430+59_430+60del
NM_007292.5:c.431-2590_431-2589del NP_009223.2:n.431-2590_431-2589del
XM_011524868.1:c.226+59_226+60del XP_011523170.1:n.226+59_226+60del
XM_011524869.1:c.23-2590_23-2589del XP_011523171.1:n.23-2590_23-2589del
XM_011524868.3:c.226+59_226+60del XP_011523170.1:n.226+59_226+60del
XM_011524869.3:c.23-2590_23-2589del XP_011523171.1:n.23-2590_23-2589del
NM_004035.7:c.430+59_430+60del MANE Select NP_004026.2:n.430+59_430+60del
NM_001185039.2:c.316+59_316+60del NP_001171968.1:n.316+59_316+60del
NM_007292.6:c.431-2590_431-2589del NP_009223.2:n.431-2590_431-2589del