Canonical Allele Identifier: CA918963613
Gene: ACAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1591375496

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108147106_108147109del , CM000673.2:g.108147106_108147109del GRCh38
NC_000011.9:g.108017833_108017836del , CM000673.1:g.108017833_108017836del GRCh37
NC_000011.8:g.107523043_107523046del NCBI36
NG_009888.1:g.30576_30579del
NG_009888.2:g.35402_35405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.1164-164_1164-161del MANE Select ENSP00000265838.4:n.1164-164_1164-161del
ENST00000671707.1:n.1259-164_1259-161del
ENST00000672031.1:c.*151-164_*151-161del ENSP00000500463.1:n.*151-164_*151-161del
ENST00000672284.1:c.894-164_894-161del ENSP00000500444.1:n.894-164_894-161del
ENST00000672354.1:c.1164-143_1164-140del ENSP00000500490.1:n.1164-143_1164-140del
ENST00000672367.1:c.801-164_801-161del ENSP00000500209.1:n.801-164_801-161del
ENST00000672580.1:c.*419-164_*419-161del ENSP00000500366.1:n.*419-164_*419-161del
ENST00000672907.1:c.849-164_849-161del ENSP00000500928.1:n.849-164_849-161del
ENST00000673000.1:n.1252-164_1252-161del
ENST00000673531.1:c.894-164_894-161del ENSP00000500163.1:n.894-164_894-161del
ENST00000265838.8:c.1164-164_1164-161del ENSP00000265838.4:n.1164-164_1164-161del
ENST00000533597.1:n.240-164_240-161del
NM_000019.3:c.1164-164_1164-161del NP_000010.1:n.1164-164_1164-161del
XM_006718834.2:c.894-164_894-161del XP_006718897.1:n.894-164_894-161del
XM_006718835.2:c.894-164_894-161del XP_006718898.1:n.894-164_894-161del
XM_006718835.3:c.894-164_894-161del XP_006718898.1:n.894-164_894-161del
XM_017017681.1:c.894-164_894-161del XP_016873170.1:n.894-164_894-161del
XM_017017682.2:c.786-164_786-161del XP_016873171.1:n.786-164_786-161del
XM_017017683.2:c.786-164_786-161del XP_016873172.1:n.786-164_786-161del
XM_024448511.1:c.894-164_894-161del XP_024304279.1:n.894-164_894-161del
XM_024448512.1:c.894-164_894-161del XP_024304280.1:n.894-164_894-161del
XM_024448513.1:c.894-164_894-161del XP_024304281.1:n.894-164_894-161del
XM_024448514.1:c.894-164_894-161del XP_024304282.1:n.894-164_894-161del
XM_024448515.1:c.894-164_894-161del XP_024304283.1:n.894-164_894-161del
NM_000019.4:c.1164-164_1164-161del MANE Select NP_000010.1:n.1164-164_1164-161del
NM_001386677.1:c.1164-143_1164-140del NP_001373606.1:n.1164-143_1164-140del
NM_001386678.1:c.849-164_849-161del NP_001373607.1:n.849-164_849-161del
NM_001386679.1:c.867-164_867-161del NP_001373608.1:n.867-164_867-161del
NM_001386681.1:c.894-164_894-161del NP_001373610.1:n.894-164_894-161del
NM_001386682.1:c.894-164_894-161del NP_001373611.1:n.894-164_894-161del
NM_001386685.1:c.894-164_894-161del NP_001373614.1:n.894-164_894-161del
NM_001386686.1:c.894-164_894-161del NP_001373615.1:n.894-164_894-161del
NM_001386687.1:c.894-164_894-161del NP_001373616.1:n.894-164_894-161del
NM_001386688.1:c.894-164_894-161del NP_001373617.1:n.894-164_894-161del
NM_001386689.1:c.894-164_894-161del NP_001373618.1:n.894-164_894-161del
NM_001386690.1:c.894-164_894-161del NP_001373619.1:n.894-164_894-161del
NM_001386691.1:c.894-164_894-161del NP_001373620.1:n.894-164_894-161del
NR_170162.1:n.1139-164_1139-161del
NR_170163.1:n.1197-164_1197-161del