Canonical Allele Identifier: CA2793550170

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146231_108146232insCCAAACACACCCAACACA , CM000673.2:g.108146231_108146232insCCAAACACACCCAACACA	GRCh38
NC_000011.9:g.108016958_108016959insCCAAACACACCCAACACA , CM000673.1:g.108016958_108016959insCCAAACACACCCAACACA	GRCh37
NC_000011.8:g.107522168_107522169insCCAAACACACCCAACACA	NCBI36
NG_009888.1:g.29701_29702insCCAAACACACCCAACACA
NG_009888.2:g.34527_34528insCCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1035_1036insCCAAACACACCCAACACA MANE Select	ENSP00000265838.4:p.Glu345_Asp346insProAsnThrProAsnThr
ENST00000671707.1:n.1130_1131insCCAAACACACCCAACACA
ENST00000672031.1:c.*22_*23insCCAAACACACCCAACACA	ENSP00000500463.1:n.*22_*23insCCAAACACACCCAACACA
ENST00000672284.1:c.765_766insCCAAACACACCCAACACA	ENSP00000500444.1:p.Glu255_Asp256insProAsnThrProAsnThr
ENST00000672354.1:c.1035_1036insCCAAACACACCCAACACA	ENSP00000500490.1:p.Glu345_Asp346insProAsnThrProAsnThr
ENST00000672367.1:c.672_673insCCAAACACACCCAACACA	ENSP00000500209.1:p.Glu224_Asp225insProAsnThrProAsnThr
ENST00000672580.1:c.*290_*291insCCAAACACACCCAACACA	ENSP00000500366.1:n.*290_*291insCCAAACACACCCAACACA
ENST00000672907.1:c.720_721insCCAAACACACCCAACACA	ENSP00000500928.1:p.Glu240_Asp241insProAsnThrProAsnThr
ENST00000673000.1:n.1123_1124insCCAAACACACCCAACACA
ENST00000673531.1:c.765_766insCCAAACACACCCAACACA	ENSP00000500163.1:p.Glu255_Asp256insProAsnThrProAsnThr
ENST00000265838.8:c.1035_1036insCCAAACACACCCAACACA	ENSP00000265838.4:p.Glu345_Asp346insProAsnThrProAsnThr
ENST00000533597.1:n.111_112insCCAAACACACCCAACACA
NM_000019.3:c.1035_1036insCCAAACACACCCAACACA	NP_000010.1:p.Glu345_Asp346insProAsnThrProAsnThr
XM_006718834.2:c.765_766insCCAAACACACCCAACACA	XP_006718897.1:p.Glu255_Asp256insProAsnThrProAsnThr
XM_006718835.2:c.765_766insCCAAACACACCCAACACA	XP_006718898.1:p.Glu255_Asp256insProAsnThrProAsnThr
XM_006718835.3:c.765_766insCCAAACACACCCAACACA	XP_006718898.1:p.Glu255_Asp256insProAsnThrProAsnThr
XM_017017681.1:c.765_766insCCAAACACACCCAACACA	XP_016873170.1:p.Glu255_Asp256insProAsnThrProAsnThr
XM_017017682.2:c.657_658insCCAAACACACCCAACACA	XP_016873171.1:p.Glu219_Asp220insProAsnThrProAsnThr
XM_017017683.2:c.657_658insCCAAACACACCCAACACA	XP_016873172.1:p.Glu219_Asp220insProAsnThrProAsnThr
XM_024448511.1:c.765_766insCCAAACACACCCAACACA	XP_024304279.1:p.Glu255_Asp256insProAsnThrProAsnThr
XM_024448512.1:c.765_766insCCAAACACACCCAACACA	XP_024304280.1:p.Glu255_Asp256insProAsnThrProAsnThr
XM_024448513.1:c.765_766insCCAAACACACCCAACACA	XP_024304281.1:p.Glu255_Asp256insProAsnThrProAsnThr
XM_024448514.1:c.765_766insCCAAACACACCCAACACA	XP_024304282.1:p.Glu255_Asp256insProAsnThrProAsnThr
XM_024448515.1:c.765_766insCCAAACACACCCAACACA	XP_024304283.1:p.Glu255_Asp256insProAsnThrProAsnThr
NM_000019.4:c.1035_1036insCCAAACACACCCAACACA MANE Select	NP_000010.1:p.Glu345_Asp346insProAsnThrProAsnThr
NM_001386677.1:c.1035_1036insCCAAACACACCCAACACA	NP_001373606.1:p.Glu345_Asp346insProAsnThrProAsnThr
NM_001386678.1:c.720_721insCCAAACACACCCAACACA	NP_001373607.1:p.Glu240_Asp241insProAsnThrProAsnThr
NM_001386679.1:c.738_739insCCAAACACACCCAACACA	NP_001373608.1:p.Glu246_Asp247insProAsnThrProAsnThr
NM_001386681.1:c.765_766insCCAAACACACCCAACACA	NP_001373610.1:p.Glu255_Asp256insProAsnThrProAsnThr
NM_001386682.1:c.765_766insCCAAACACACCCAACACA	NP_001373611.1:p.Glu255_Asp256insProAsnThrProAsnThr
NM_001386685.1:c.765_766insCCAAACACACCCAACACA	NP_001373614.1:p.Glu255_Asp256insProAsnThrProAsnThr
NM_001386686.1:c.765_766insCCAAACACACCCAACACA	NP_001373615.1:p.Glu255_Asp256insProAsnThrProAsnThr
NM_001386687.1:c.765_766insCCAAACACACCCAACACA	NP_001373616.1:p.Glu255_Asp256insProAsnThrProAsnThr
NM_001386688.1:c.765_766insCCAAACACACCCAACACA	NP_001373617.1:p.Glu255_Asp256insProAsnThrProAsnThr
NM_001386689.1:c.765_766insCCAAACACACCCAACACA	NP_001373618.1:p.Glu255_Asp256insProAsnThrProAsnThr
NM_001386690.1:c.765_766insCCAAACACACCCAACACA	NP_001373619.1:p.Glu255_Asp256insProAsnThrProAsnThr
NM_001386691.1:c.765_766insCCAAACACACCCAACACA	NP_001373620.1:p.Glu255_Asp256insProAsnThrProAsnThr
NR_170162.1:n.1010_1011insCCAAACACACCCAACACA
NR_170163.1:n.1068_1069insCCAAACACACCCAACACA