Canonical Allele Identifier: CA6263280

Gene: ACAT1

Linked Data

• dbSNP Id: rs768505178
• ExAC: 11:108014662 T / TG
• gnomAD v2: 11-108014662-T-TG
• gnomAD v3: 11-108143935-T-TG
• gnomAD v4: 11-108143935-T-TG
• MyVariant Identifiers: chr11:g.108014662_108014663insG (hg19) ; chr11:g.108014663delinsGA (hg19) ; chr11:g.108014663_108014664delinsGAA (hg19) ; chr11:g.108143935_108143936insG (hg38) ; chr11:g.108143936delinsGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108143935_108143936insG , CM000673.2:g.108143935_108143936insG	GRCh38
NC_000011.9:g.108014662_108014663insG , CM000673.1:g.108014662_108014663insG	GRCh37
NC_000011.8:g.107519872_107519873insG	NCBI36
NG_009888.1:g.27405_27406insG
NG_009888.2:g.32231_32232insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.941-48_941-47insG MANE Select	ENSP00000265838.4:n.941-48_941-47insG
ENST00000671707.1:n.1036-48_1036-47insG
ENST00000672031.1:c.940+1385_940+1386insG	ENSP00000500463.1:n.940+1385_940+1386insG
ENST00000672284.1:c.671-48_671-47insG	ENSP00000500444.1:n.671-48_671-47insG
ENST00000672354.1:c.941-48_941-47insG	ENSP00000500490.1:n.941-48_941-47insG
ENST00000672367.1:c.578-48_578-47insG	ENSP00000500209.1:n.578-48_578-47insG
ENST00000672580.1:c.*196-48_*196-47insG	ENSP00000500366.1:n.*196-48_*196-47insG
ENST00000672907.1:c.626-48_626-47insG	ENSP00000500928.1:n.626-48_626-47insG
ENST00000673000.1:n.1029-48_1029-47insG
ENST00000673531.1:c.671-48_671-47insG	ENSP00000500163.1:n.671-48_671-47insG
ENST00000265838.8:c.941-48_941-47insG	ENSP00000265838.4:n.941-48_941-47insG
ENST00000531813.5:c.*1798_*1799insG	ENSP00000435965.1:n.*1798_*1799insG
ENST00000532792.5:n.436-48_436-47insG
ENST00000533610.1:n.402-48_402-47insG
NM_000019.3:c.941-48_941-47insG	NP_000010.1:n.941-48_941-47insG
XM_006718834.2:c.671-48_671-47insG	XP_006718897.1:n.671-48_671-47insG
XM_006718835.2:c.671-48_671-47insG	XP_006718898.1:n.671-48_671-47insG
XM_006718835.3:c.671-48_671-47insG	XP_006718898.1:n.671-48_671-47insG
XM_017017681.1:c.671-48_671-47insG	XP_016873170.1:n.671-48_671-47insG
XM_017017682.2:c.563-48_563-47insG	XP_016873171.1:n.563-48_563-47insG
XM_017017683.2:c.563-48_563-47insG	XP_016873172.1:n.563-48_563-47insG
XM_024448511.1:c.671-48_671-47insG	XP_024304279.1:n.671-48_671-47insG
XM_024448512.1:c.671-48_671-47insG	XP_024304280.1:n.671-48_671-47insG
XM_024448513.1:c.671-48_671-47insG	XP_024304281.1:n.671-48_671-47insG
XM_024448514.1:c.671-48_671-47insG	XP_024304282.1:n.671-48_671-47insG
XM_024448515.1:c.671-48_671-47insG	XP_024304283.1:n.671-48_671-47insG
NM_000019.4:c.941-48_941-47insG MANE Select	NP_000010.1:n.941-48_941-47insG
NM_001386677.1:c.941-48_941-47insG	NP_001373606.1:n.941-48_941-47insG
NM_001386678.1:c.626-48_626-47insG	NP_001373607.1:n.626-48_626-47insG
NM_001386679.1:c.644-48_644-47insG	NP_001373608.1:n.644-48_644-47insG
NM_001386681.1:c.671-48_671-47insG	NP_001373610.1:n.671-48_671-47insG
NM_001386682.1:c.671-48_671-47insG	NP_001373611.1:n.671-48_671-47insG
NM_001386685.1:c.671-48_671-47insG	NP_001373614.1:n.671-48_671-47insG
NM_001386686.1:c.671-48_671-47insG	NP_001373615.1:n.671-48_671-47insG
NM_001386687.1:c.671-48_671-47insG	NP_001373616.1:n.671-48_671-47insG
NM_001386688.1:c.671-48_671-47insG	NP_001373617.1:n.671-48_671-47insG
NM_001386689.1:c.671-48_671-47insG	NP_001373618.1:n.671-48_671-47insG
NM_001386690.1:c.671-48_671-47insG	NP_001373619.1:n.671-48_671-47insG
NM_001386691.1:c.671-48_671-47insG	NP_001373620.1:n.671-48_671-47insG
NR_170162.1:n.980+1385_980+1386insG
NR_170163.1:n.974-48_974-47insG