Canonical Allele Identifier: CA1998721002

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147317_108147320delinsAAGG , CM000673.2:g.108147317_108147320delinsAAGG	GRCh38
NC_000011.9:g.108018044_108018047delinsAAGG , CM000673.1:g.108018044_108018047delinsAAGG	GRCh37
NC_000011.8:g.107523254_107523257delinsAAGG	NCBI36
NG_009888.1:g.30787_30790delinsAAGG
NG_009888.2:g.35613_35616delinsAAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.1211_1214delinsAAGG MANE Select	ENSP00000265838.4:p.Gln404=
ENST00000671707.1:n.1306_1309delinsAAGG
ENST00000672031.1:c.*198_*201delinsAAGG	ENSP00000500463.1:n.*198_*201delinsAAGG
ENST00000672284.1:c.941_944delinsAAGG	ENSP00000500444.1:p.Gln314=
ENST00000672354.1:c.1232_1235delinsAAGG	ENSP00000500490.1:p.Gln411=
ENST00000672367.1:c.848_851delinsAAGG	ENSP00000500209.1:p.Gln283=
ENST00000672580.1:c.*466_*469delinsAAGG	ENSP00000500366.1:n.*466_*469delinsAAGG
ENST00000672907.1:c.896_899delinsAAGG	ENSP00000500928.1:p.Gln299=
ENST00000673000.1:n.1299_1302delinsAAGG
ENST00000673531.1:c.941_944delinsAAGG	ENSP00000500163.1:p.Gln314=
ENST00000265838.8:c.1211_1214delinsAAGG	ENSP00000265838.4:p.Gln404=
ENST00000533597.1:n.287_290delinsAAGG
NM_000019.3:c.1211_1214delinsAAGG	NP_000010.1:p.Gln404=
XM_006718834.2:c.941_944delinsAAGG	XP_006718897.1:p.Gln314=
XM_006718835.2:c.941_944delinsAAGG	XP_006718898.1:p.Gln314=
XM_006718835.3:c.941_944delinsAAGG	XP_006718898.1:p.Gln314=
XM_017017681.1:c.941_944delinsAAGG	XP_016873170.1:p.Gln314=
XM_017017682.2:c.833_836delinsAAGG	XP_016873171.1:p.Gln278=
XM_017017683.2:c.833_836delinsAAGG	XP_016873172.1:p.Gln278=
XM_024448511.1:c.941_944delinsAAGG	XP_024304279.1:p.Gln314=
XM_024448512.1:c.941_944delinsAAGG	XP_024304280.1:p.Gln314=
XM_024448513.1:c.941_944delinsAAGG	XP_024304281.1:p.Gln314=
XM_024448514.1:c.941_944delinsAAGG	XP_024304282.1:p.Gln314=
XM_024448515.1:c.941_944delinsAAGG	XP_024304283.1:p.Gln314=
NM_000019.4:c.1211_1214delinsAAGG MANE Select	NP_000010.1:p.Gln404=
NM_001386677.1:c.1232_1235delinsAAGG	NP_001373606.1:p.Gln411=
NM_001386678.1:c.896_899delinsAAGG	NP_001373607.1:p.Gln299=
NM_001386679.1:c.914_917delinsAAGG	NP_001373608.1:p.Gln305=
NM_001386681.1:c.941_944delinsAAGG	NP_001373610.1:p.Gln314=
NM_001386682.1:c.941_944delinsAAGG	NP_001373611.1:p.Gln314=
NM_001386685.1:c.941_944delinsAAGG	NP_001373614.1:p.Gln314=
NM_001386686.1:c.941_944delinsAAGG	NP_001373615.1:p.Gln314=
NM_001386687.1:c.941_944delinsAAGG	NP_001373616.1:p.Gln314=
NM_001386688.1:c.941_944delinsAAGG	NP_001373617.1:p.Gln314=
NM_001386689.1:c.941_944delinsAAGG	NP_001373618.1:p.Gln314=
NM_001386690.1:c.941_944delinsAAGG	NP_001373619.1:p.Gln314=
NM_001386691.1:c.941_944delinsAAGG	NP_001373620.1:p.Gln314=
NR_170162.1:n.1186_1189delinsAAGG
NR_170163.1:n.1244_1247delinsAAGG