Canonical Allele Identifier: CA2793550174
Gene: ACAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108146479_108146481del , CM000673.2:g.108146479_108146481del GRCh38
NC_000011.9:g.108017206_108017208del , CM000673.1:g.108017206_108017208del GRCh37
NC_000011.8:g.107522416_107522418del NCBI36
NG_009888.1:g.29949_29951del
NG_009888.2:g.34775_34777del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.1163+120_1163+122del MANE Select ENSP00000265838.4:n.1163+120_1163+122del
ENST00000671707.1:n.1258+120_1258+122del
ENST00000672031.1:c.*150+120_*150+122del ENSP00000500463.1:n.*150+120_*150+122del
ENST00000672284.1:c.893+120_893+122del ENSP00000500444.1:n.893+120_893+122del
ENST00000672354.1:c.1163+120_1163+122del ENSP00000500490.1:n.1163+120_1163+122del
ENST00000672367.1:c.800+120_800+122del ENSP00000500209.1:n.800+120_800+122del
ENST00000672580.1:c.*418+120_*418+122del ENSP00000500366.1:n.*418+120_*418+122del
ENST00000672907.1:c.848+120_848+122del ENSP00000500928.1:n.848+120_848+122del
ENST00000673000.1:n.1251+120_1251+122del
ENST00000673531.1:c.893+120_893+122del ENSP00000500163.1:n.893+120_893+122del
ENST00000265838.8:c.1163+120_1163+122del ENSP00000265838.4:n.1163+120_1163+122del
ENST00000533597.1:n.239+120_239+122del
NM_000019.3:c.1163+120_1163+122del NP_000010.1:n.1163+120_1163+122del
XM_006718834.2:c.893+120_893+122del XP_006718897.1:n.893+120_893+122del
XM_006718835.2:c.893+120_893+122del XP_006718898.1:n.893+120_893+122del
XM_006718835.3:c.893+120_893+122del XP_006718898.1:n.893+120_893+122del
XM_017017681.1:c.893+120_893+122del XP_016873170.1:n.893+120_893+122del
XM_017017682.2:c.785+120_785+122del XP_016873171.1:n.785+120_785+122del
XM_017017683.2:c.785+120_785+122del XP_016873172.1:n.785+120_785+122del
XM_024448511.1:c.893+120_893+122del XP_024304279.1:n.893+120_893+122del
XM_024448512.1:c.893+120_893+122del XP_024304280.1:n.893+120_893+122del
XM_024448513.1:c.893+120_893+122del XP_024304281.1:n.893+120_893+122del
XM_024448514.1:c.893+120_893+122del XP_024304282.1:n.893+120_893+122del
XM_024448515.1:c.893+120_893+122del XP_024304283.1:n.893+120_893+122del
NM_000019.4:c.1163+120_1163+122del MANE Select NP_000010.1:n.1163+120_1163+122del
NM_001386677.1:c.1163+120_1163+122del NP_001373606.1:n.1163+120_1163+122del
NM_001386678.1:c.848+120_848+122del NP_001373607.1:n.848+120_848+122del
NM_001386679.1:c.866+120_866+122del NP_001373608.1:n.866+120_866+122del
NM_001386681.1:c.893+120_893+122del NP_001373610.1:n.893+120_893+122del
NM_001386682.1:c.893+120_893+122del NP_001373611.1:n.893+120_893+122del
NM_001386685.1:c.893+120_893+122del NP_001373614.1:n.893+120_893+122del
NM_001386686.1:c.893+120_893+122del NP_001373615.1:n.893+120_893+122del
NM_001386687.1:c.893+120_893+122del NP_001373616.1:n.893+120_893+122del
NM_001386688.1:c.893+120_893+122del NP_001373617.1:n.893+120_893+122del
NM_001386689.1:c.893+120_893+122del NP_001373618.1:n.893+120_893+122del
NM_001386690.1:c.893+120_893+122del NP_001373619.1:n.893+120_893+122del
NM_001386691.1:c.893+120_893+122del NP_001373620.1:n.893+120_893+122del
NR_170162.1:n.1138+120_1138+122del
NR_170163.1:n.1196+120_1196+122del