Canonical Allele Identifier: CA2793550021
Gene: ACAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108143791_108143792del , CM000673.2:g.108143791_108143792del GRCh38
NC_000011.9:g.108014518_108014519del , CM000673.1:g.108014518_108014519del GRCh37
NC_000011.8:g.107519728_107519729del NCBI36
NG_009888.1:g.27261_27262del
NG_009888.2:g.32087_32088del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.941-192_941-191del MANE Select ENSP00000265838.4:n.941-192_941-191del
ENST00000671707.1:n.1036-192_1036-191del
ENST00000672031.1:c.940+1241_940+1242del ENSP00000500463.1:n.940+1241_940+1242del
ENST00000672284.1:c.671-192_671-191del ENSP00000500444.1:n.671-192_671-191del
ENST00000672354.1:c.941-192_941-191del ENSP00000500490.1:n.941-192_941-191del
ENST00000672367.1:c.578-192_578-191del ENSP00000500209.1:n.578-192_578-191del
ENST00000672580.1:c.*196-192_*196-191del ENSP00000500366.1:n.*196-192_*196-191del
ENST00000672907.1:c.626-192_626-191del ENSP00000500928.1:n.626-192_626-191del
ENST00000673000.1:n.1029-192_1029-191del
ENST00000673531.1:c.671-192_671-191del ENSP00000500163.1:n.671-192_671-191del
ENST00000265838.8:c.941-192_941-191del ENSP00000265838.4:n.941-192_941-191del
ENST00000531813.5:c.*1654_*1655del ENSP00000435965.1:n.*1654_*1655del
ENST00000532792.5:n.436-192_436-191del
ENST00000533610.1:n.402-192_402-191del
NM_000019.3:c.941-192_941-191del NP_000010.1:n.941-192_941-191del
XM_006718834.2:c.671-192_671-191del XP_006718897.1:n.671-192_671-191del
XM_006718835.2:c.671-192_671-191del XP_006718898.1:n.671-192_671-191del
XM_006718835.3:c.671-192_671-191del XP_006718898.1:n.671-192_671-191del
XM_017017681.1:c.671-192_671-191del XP_016873170.1:n.671-192_671-191del
XM_017017682.2:c.563-192_563-191del XP_016873171.1:n.563-192_563-191del
XM_017017683.2:c.563-192_563-191del XP_016873172.1:n.563-192_563-191del
XM_024448511.1:c.671-192_671-191del XP_024304279.1:n.671-192_671-191del
XM_024448512.1:c.671-192_671-191del XP_024304280.1:n.671-192_671-191del
XM_024448513.1:c.671-192_671-191del XP_024304281.1:n.671-192_671-191del
XM_024448514.1:c.671-192_671-191del XP_024304282.1:n.671-192_671-191del
XM_024448515.1:c.671-192_671-191del XP_024304283.1:n.671-192_671-191del
NM_000019.4:c.941-192_941-191del MANE Select NP_000010.1:n.941-192_941-191del
NM_001386677.1:c.941-192_941-191del NP_001373606.1:n.941-192_941-191del
NM_001386678.1:c.626-192_626-191del NP_001373607.1:n.626-192_626-191del
NM_001386679.1:c.644-192_644-191del NP_001373608.1:n.644-192_644-191del
NM_001386681.1:c.671-192_671-191del NP_001373610.1:n.671-192_671-191del
NM_001386682.1:c.671-192_671-191del NP_001373611.1:n.671-192_671-191del
NM_001386685.1:c.671-192_671-191del NP_001373614.1:n.671-192_671-191del
NM_001386686.1:c.671-192_671-191del NP_001373615.1:n.671-192_671-191del
NM_001386687.1:c.671-192_671-191del NP_001373616.1:n.671-192_671-191del
NM_001386688.1:c.671-192_671-191del NP_001373617.1:n.671-192_671-191del
NM_001386689.1:c.671-192_671-191del NP_001373618.1:n.671-192_671-191del
NM_001386690.1:c.671-192_671-191del NP_001373619.1:n.671-192_671-191del
NM_001386691.1:c.671-192_671-191del NP_001373620.1:n.671-192_671-191del
NR_170162.1:n.980+1241_980+1242del
NR_170163.1:n.974-192_974-191del