Canonical Allele Identifier: CA16603212

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 376927
• ClinVar RCV Id: RCV000424025 ; RCV001828394
• dbSNP Id: rs1057520091
• MyVariant Identifiers: chr11:g.108018032_108018039del (hg19) ; chr11:g.108147305_108147312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147306_108147313del , CM000673.2:g.108147306_108147313del	GRCh38
NC_000011.9:g.108018033_108018040del , CM000673.1:g.108018033_108018040del	GRCh37
NC_000011.8:g.107523243_107523250del	NCBI36
NG_009888.1:g.30776_30783del
NG_009888.2:g.35602_35609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1200_1207del MANE Select	ENSP00000265838.4:p.His400GlnfsTer?
ENST00000671707.1:n.1295_1302del
ENST00000672031.1:c.*187_*194del	ENSP00000500463.1:n.*187_*194del
ENST00000672284.1:c.930_937del	ENSP00000500444.1:p.His310GlnfsTer?
ENST00000672354.1:c.1221_1228del	ENSP00000500490.1:p.His407GlnfsTer?
ENST00000672367.1:c.837_844del	ENSP00000500209.1:p.His279GlnfsTer?
ENST00000672580.1:c.*455_*462del	ENSP00000500366.1:n.*455_*462del
ENST00000672907.1:c.885_892del	ENSP00000500928.1:p.His295GlnfsTer?
ENST00000673000.1:n.1288_1295del
ENST00000673531.1:c.930_937del	ENSP00000500163.1:p.His310GlnfsTer?
ENST00000265838.8:c.1200_1207del	ENSP00000265838.4:p.His400GlnfsTer?
ENST00000533597.1:n.276_283del
NM_000019.3:c.1200_1207del	NP_000010.1:p.His400GlnfsTer?
XM_006718834.2:c.930_937del	XP_006718897.1:p.His310GlnfsTer?
XM_006718835.2:c.930_937del	XP_006718898.1:p.His310GlnfsTer?
XM_006718835.3:c.930_937del	XP_006718898.1:p.His310GlnfsTer?
XM_017017681.1:c.930_937del	XP_016873170.1:p.His310GlnfsTer?
XM_017017682.2:c.822_829del	XP_016873171.1:p.His274GlnfsTer?
XM_017017683.2:c.822_829del	XP_016873172.1:p.His274GlnfsTer?
XM_024448511.1:c.930_937del	XP_024304279.1:p.His310GlnfsTer?
XM_024448512.1:c.930_937del	XP_024304280.1:p.His310GlnfsTer?
XM_024448513.1:c.930_937del	XP_024304281.1:p.His310GlnfsTer?
XM_024448514.1:c.930_937del	XP_024304282.1:p.His310GlnfsTer?
XM_024448515.1:c.930_937del	XP_024304283.1:p.His310GlnfsTer?
NM_000019.4:c.1200_1207del MANE Select	NP_000010.1:p.His400GlnfsTer?
NM_001386677.1:c.1221_1228del	NP_001373606.1:p.His407GlnfsTer?
NM_001386678.1:c.885_892del	NP_001373607.1:p.His295GlnfsTer?
NM_001386679.1:c.903_910del	NP_001373608.1:p.His301GlnfsTer?
NM_001386681.1:c.930_937del	NP_001373610.1:p.His310GlnfsTer?
NM_001386682.1:c.930_937del	NP_001373611.1:p.His310GlnfsTer?
NM_001386685.1:c.930_937del	NP_001373614.1:p.His310GlnfsTer?
NM_001386686.1:c.930_937del	NP_001373615.1:p.His310GlnfsTer?
NM_001386687.1:c.930_937del	NP_001373616.1:p.His310GlnfsTer?
NM_001386688.1:c.930_937del	NP_001373617.1:p.His310GlnfsTer?
NM_001386689.1:c.930_937del	NP_001373618.1:p.His310GlnfsTer?
NM_001386690.1:c.930_937del	NP_001373619.1:p.His310GlnfsTer?
NM_001386691.1:c.930_937del	NP_001373620.1:p.His310GlnfsTer?
NR_170162.1:n.1175_1182del
NR_170163.1:n.1233_1240del