Canonical Allele Identifier: CA671408990

Gene: ACAT1

Linked Data

• dbSNP Id: rs1345636605
• gnomAD v3: 11-108143781-ACTCCCCCCCAAT-A
• gnomAD v4: 11-108143781-ACTCCCCCCCAAT-A
• MyVariant Identifiers: chr11:g.108014509_108014520del (hg19) ; chr11:g.108143782_108143793del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108143782_108143793del , CM000673.2:g.108143782_108143793del	GRCh38
NC_000011.9:g.108014509_108014520del , CM000673.1:g.108014509_108014520del	GRCh37
NC_000011.8:g.107519719_107519730del	NCBI36
NG_009888.1:g.27252_27263del
NG_009888.2:g.32078_32089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.941-201_941-190del MANE Select	ENSP00000265838.4:n.941-201_941-190del
ENST00000671707.1:n.1036-201_1036-190del
ENST00000672031.1:c.940+1232_940+1243del	ENSP00000500463.1:n.940+1232_940+1243del
ENST00000672284.1:c.671-201_671-190del	ENSP00000500444.1:n.671-201_671-190del
ENST00000672354.1:c.941-201_941-190del	ENSP00000500490.1:n.941-201_941-190del
ENST00000672367.1:c.578-201_578-190del	ENSP00000500209.1:n.578-201_578-190del
ENST00000672580.1:c.*196-201_*196-190del	ENSP00000500366.1:n.*196-201_*196-190del
ENST00000672907.1:c.626-201_626-190del	ENSP00000500928.1:n.626-201_626-190del
ENST00000673000.1:n.1029-201_1029-190del
ENST00000673531.1:c.671-201_671-190del	ENSP00000500163.1:n.671-201_671-190del
ENST00000265838.8:c.941-201_941-190del	ENSP00000265838.4:n.941-201_941-190del
ENST00000531813.5:c.*1645_*1656del	ENSP00000435965.1:n.*1645_*1656del
ENST00000532792.5:n.436-201_436-190del
ENST00000533610.1:n.402-201_402-190del
NM_000019.3:c.941-201_941-190del	NP_000010.1:n.941-201_941-190del
XM_006718834.2:c.671-201_671-190del	XP_006718897.1:n.671-201_671-190del
XM_006718835.2:c.671-201_671-190del	XP_006718898.1:n.671-201_671-190del
XM_006718835.3:c.671-201_671-190del	XP_006718898.1:n.671-201_671-190del
XM_017017681.1:c.671-201_671-190del	XP_016873170.1:n.671-201_671-190del
XM_017017682.2:c.563-201_563-190del	XP_016873171.1:n.563-201_563-190del
XM_017017683.2:c.563-201_563-190del	XP_016873172.1:n.563-201_563-190del
XM_024448511.1:c.671-201_671-190del	XP_024304279.1:n.671-201_671-190del
XM_024448512.1:c.671-201_671-190del	XP_024304280.1:n.671-201_671-190del
XM_024448513.1:c.671-201_671-190del	XP_024304281.1:n.671-201_671-190del
XM_024448514.1:c.671-201_671-190del	XP_024304282.1:n.671-201_671-190del
XM_024448515.1:c.671-201_671-190del	XP_024304283.1:n.671-201_671-190del
NM_000019.4:c.941-201_941-190del MANE Select	NP_000010.1:n.941-201_941-190del
NM_001386677.1:c.941-201_941-190del	NP_001373606.1:n.941-201_941-190del
NM_001386678.1:c.626-201_626-190del	NP_001373607.1:n.626-201_626-190del
NM_001386679.1:c.644-201_644-190del	NP_001373608.1:n.644-201_644-190del
NM_001386681.1:c.671-201_671-190del	NP_001373610.1:n.671-201_671-190del
NM_001386682.1:c.671-201_671-190del	NP_001373611.1:n.671-201_671-190del
NM_001386685.1:c.671-201_671-190del	NP_001373614.1:n.671-201_671-190del
NM_001386686.1:c.671-201_671-190del	NP_001373615.1:n.671-201_671-190del
NM_001386687.1:c.671-201_671-190del	NP_001373616.1:n.671-201_671-190del
NM_001386688.1:c.671-201_671-190del	NP_001373617.1:n.671-201_671-190del
NM_001386689.1:c.671-201_671-190del	NP_001373618.1:n.671-201_671-190del
NM_001386690.1:c.671-201_671-190del	NP_001373619.1:n.671-201_671-190del
NM_001386691.1:c.671-201_671-190del	NP_001373620.1:n.671-201_671-190del
NR_170162.1:n.980+1232_980+1243del
NR_170163.1:n.974-201_974-190del