Canonical Allele Identifier: CA1998719259
Gene: ACAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108143730_108143736delinsCCAAAAA , CM000673.2:g.108143730_108143736delinsCCAAAAA GRCh38
NC_000011.9:g.108014457_108014463delinsCCAAAAA , CM000673.1:g.108014457_108014463delinsCCAAAAA GRCh37
NC_000011.8:g.107519667_107519673delinsCCAAAAA NCBI36
NG_009888.1:g.27200_27206delinsCCAAAAA
NG_009888.2:g.32026_32032delinsCCAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.941-253_941-247delinsCCAAAAA MANE Select ENSP00000265838.4:n.941-253_941-247delinsCCAAAAA
ENST00000671707.1:n.1036-253_1036-247delinsCCAAAAA
ENST00000672031.1:c.940+1180_940+1186delinsCCAAAAA ENSP00000500463.1:n.940+1180_940+1186delinsCCAAAAA
ENST00000672284.1:c.671-253_671-247delinsCCAAAAA ENSP00000500444.1:n.671-253_671-247delinsCCAAAAA
ENST00000672354.1:c.941-253_941-247delinsCCAAAAA ENSP00000500490.1:n.941-253_941-247delinsCCAAAAA
ENST00000672367.1:c.578-253_578-247delinsCCAAAAA ENSP00000500209.1:n.578-253_578-247delinsCCAAAAA
ENST00000672580.1:c.*196-253_*196-247delinsCCAAAAA ENSP00000500366.1:n.*196-253_*196-247delinsCCAAAAA
ENST00000672907.1:c.626-253_626-247delinsCCAAAAA ENSP00000500928.1:n.626-253_626-247delinsCCAAAAA
ENST00000673000.1:n.1029-253_1029-247delinsCCAAAAA
ENST00000673531.1:c.671-253_671-247delinsCCAAAAA ENSP00000500163.1:n.671-253_671-247delinsCCAAAAA
ENST00000265838.8:c.941-253_941-247delinsCCAAAAA ENSP00000265838.4:n.941-253_941-247delinsCCAAAAA
ENST00000531813.5:c.*1593_*1599delinsCCAAAAA ENSP00000435965.1:n.*1593_*1599delinsCCAAAAA
ENST00000532792.5:n.436-253_436-247delinsCCAAAAA
ENST00000533610.1:n.402-253_402-247delinsCCAAAAA
NM_000019.3:c.941-253_941-247delinsCCAAAAA NP_000010.1:n.941-253_941-247delinsCCAAAAA
XM_006718834.2:c.671-253_671-247delinsCCAAAAA XP_006718897.1:n.671-253_671-247delinsCCAAAAA
XM_006718835.2:c.671-253_671-247delinsCCAAAAA XP_006718898.1:n.671-253_671-247delinsCCAAAAA
XM_006718835.3:c.671-253_671-247delinsCCAAAAA XP_006718898.1:n.671-253_671-247delinsCCAAAAA
XM_017017681.1:c.671-253_671-247delinsCCAAAAA XP_016873170.1:n.671-253_671-247delinsCCAAAAA
XM_017017682.2:c.563-253_563-247delinsCCAAAAA XP_016873171.1:n.563-253_563-247delinsCCAAAAA
XM_017017683.2:c.563-253_563-247delinsCCAAAAA XP_016873172.1:n.563-253_563-247delinsCCAAAAA
XM_024448511.1:c.671-253_671-247delinsCCAAAAA XP_024304279.1:n.671-253_671-247delinsCCAAAAA
XM_024448512.1:c.671-253_671-247delinsCCAAAAA XP_024304280.1:n.671-253_671-247delinsCCAAAAA
XM_024448513.1:c.671-253_671-247delinsCCAAAAA XP_024304281.1:n.671-253_671-247delinsCCAAAAA
XM_024448514.1:c.671-253_671-247delinsCCAAAAA XP_024304282.1:n.671-253_671-247delinsCCAAAAA
XM_024448515.1:c.671-253_671-247delinsCCAAAAA XP_024304283.1:n.671-253_671-247delinsCCAAAAA
NM_000019.4:c.941-253_941-247delinsCCAAAAA MANE Select NP_000010.1:n.941-253_941-247delinsCCAAAAA
NM_001386677.1:c.941-253_941-247delinsCCAAAAA NP_001373606.1:n.941-253_941-247delinsCCAAAAA
NM_001386678.1:c.626-253_626-247delinsCCAAAAA NP_001373607.1:n.626-253_626-247delinsCCAAAAA
NM_001386679.1:c.644-253_644-247delinsCCAAAAA NP_001373608.1:n.644-253_644-247delinsCCAAAAA
NM_001386681.1:c.671-253_671-247delinsCCAAAAA NP_001373610.1:n.671-253_671-247delinsCCAAAAA
NM_001386682.1:c.671-253_671-247delinsCCAAAAA NP_001373611.1:n.671-253_671-247delinsCCAAAAA
NM_001386685.1:c.671-253_671-247delinsCCAAAAA NP_001373614.1:n.671-253_671-247delinsCCAAAAA
NM_001386686.1:c.671-253_671-247delinsCCAAAAA NP_001373615.1:n.671-253_671-247delinsCCAAAAA
NM_001386687.1:c.671-253_671-247delinsCCAAAAA NP_001373616.1:n.671-253_671-247delinsCCAAAAA
NM_001386688.1:c.671-253_671-247delinsCCAAAAA NP_001373617.1:n.671-253_671-247delinsCCAAAAA
NM_001386689.1:c.671-253_671-247delinsCCAAAAA NP_001373618.1:n.671-253_671-247delinsCCAAAAA
NM_001386690.1:c.671-253_671-247delinsCCAAAAA NP_001373619.1:n.671-253_671-247delinsCCAAAAA
NM_001386691.1:c.671-253_671-247delinsCCAAAAA NP_001373620.1:n.671-253_671-247delinsCCAAAAA
NR_170162.1:n.980+1180_980+1186delinsCCAAAAA
NR_170163.1:n.974-253_974-247delinsCCAAAAA