Canonical Allele Identifier: CA2615842668
Gene: ACAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108143781_108143783del , CM000673.2:g.108143781_108143783del GRCh38
NC_000011.9:g.108014508_108014510del , CM000673.1:g.108014508_108014510del GRCh37
NC_000011.8:g.107519718_107519720del NCBI36
NG_009888.1:g.27251_27253del
NG_009888.2:g.32077_32079del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.941-202_941-200del MANE Select ENSP00000265838.4:n.941-202_941-200del
ENST00000671707.1:n.1036-202_1036-200del
ENST00000672031.1:c.940+1231_940+1233del ENSP00000500463.1:n.940+1231_940+1233del
ENST00000672284.1:c.671-202_671-200del ENSP00000500444.1:n.671-202_671-200del
ENST00000672354.1:c.941-202_941-200del ENSP00000500490.1:n.941-202_941-200del
ENST00000672367.1:c.578-202_578-200del ENSP00000500209.1:n.578-202_578-200del
ENST00000672580.1:c.*196-202_*196-200del ENSP00000500366.1:n.*196-202_*196-200del
ENST00000672907.1:c.626-202_626-200del ENSP00000500928.1:n.626-202_626-200del
ENST00000673000.1:n.1029-202_1029-200del
ENST00000673531.1:c.671-202_671-200del ENSP00000500163.1:n.671-202_671-200del
ENST00000265838.8:c.941-202_941-200del ENSP00000265838.4:n.941-202_941-200del
ENST00000531813.5:c.*1644_*1646del ENSP00000435965.1:n.*1644_*1646del
ENST00000532792.5:n.436-202_436-200del
ENST00000533610.1:n.402-202_402-200del
NM_000019.3:c.941-202_941-200del NP_000010.1:n.941-202_941-200del
XM_006718834.2:c.671-202_671-200del XP_006718897.1:n.671-202_671-200del
XM_006718835.2:c.671-202_671-200del XP_006718898.1:n.671-202_671-200del
XM_006718835.3:c.671-202_671-200del XP_006718898.1:n.671-202_671-200del
XM_017017681.1:c.671-202_671-200del XP_016873170.1:n.671-202_671-200del
XM_017017682.2:c.563-202_563-200del XP_016873171.1:n.563-202_563-200del
XM_017017683.2:c.563-202_563-200del XP_016873172.1:n.563-202_563-200del
XM_024448511.1:c.671-202_671-200del XP_024304279.1:n.671-202_671-200del
XM_024448512.1:c.671-202_671-200del XP_024304280.1:n.671-202_671-200del
XM_024448513.1:c.671-202_671-200del XP_024304281.1:n.671-202_671-200del
XM_024448514.1:c.671-202_671-200del XP_024304282.1:n.671-202_671-200del
XM_024448515.1:c.671-202_671-200del XP_024304283.1:n.671-202_671-200del
NM_000019.4:c.941-202_941-200del MANE Select NP_000010.1:n.941-202_941-200del
NM_001386677.1:c.941-202_941-200del NP_001373606.1:n.941-202_941-200del
NM_001386678.1:c.626-202_626-200del NP_001373607.1:n.626-202_626-200del
NM_001386679.1:c.644-202_644-200del NP_001373608.1:n.644-202_644-200del
NM_001386681.1:c.671-202_671-200del NP_001373610.1:n.671-202_671-200del
NM_001386682.1:c.671-202_671-200del NP_001373611.1:n.671-202_671-200del
NM_001386685.1:c.671-202_671-200del NP_001373614.1:n.671-202_671-200del
NM_001386686.1:c.671-202_671-200del NP_001373615.1:n.671-202_671-200del
NM_001386687.1:c.671-202_671-200del NP_001373616.1:n.671-202_671-200del
NM_001386688.1:c.671-202_671-200del NP_001373617.1:n.671-202_671-200del
NM_001386689.1:c.671-202_671-200del NP_001373618.1:n.671-202_671-200del
NM_001386690.1:c.671-202_671-200del NP_001373619.1:n.671-202_671-200del
NM_001386691.1:c.671-202_671-200del NP_001373620.1:n.671-202_671-200del
NR_170162.1:n.980+1231_980+1233del
NR_170163.1:n.974-202_974-200del