Canonical Allele Identifier: CA601691829

Gene: ACAT1

Linked Data

• dbSNP Id: rs1255498775
• gnomAD v2: 11-108009868-TATAA-T
• gnomAD v3: 11-108139141-TATAA-T
• gnomAD v4: 11-108139141-TATAA-T
• MyVariant Identifiers: chr11:g.108009869_108009872del (hg19) ; chr11:g.108139142_108139145del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108139144_108139147del , CM000673.2:g.108139144_108139147del	GRCh38
NC_000011.9:g.108009871_108009874del , CM000673.1:g.108009871_108009874del	GRCh37
NC_000011.8:g.107515081_107515084del	NCBI36
NG_009888.1:g.22614_22617del
NG_009888.2:g.27440_27443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.579+103_579+106del MANE Select	ENSP00000265838.4:n.579+103_579+106del
ENST00000671707.1:n.674+103_674+106del
ENST00000672008.1:c.*137+103_*137+106del	ENSP00000500499.1:n.*137+103_*137+106del
ENST00000672031.1:c.579+103_579+106del	ENSP00000500463.1:n.579+103_579+106del
ENST00000672284.1:c.309+103_309+106del	ENSP00000500444.1:n.309+103_309+106del
ENST00000672354.1:c.579+103_579+106del	ENSP00000500490.1:n.579+103_579+106del
ENST00000672367.1:c.216+103_216+106del	ENSP00000500209.1:n.216+103_216+106del
ENST00000672580.1:c.579+103_579+106del	ENSP00000500366.1:n.579+103_579+106del
ENST00000672907.1:c.264+103_264+106del	ENSP00000500928.1:n.264+103_264+106del
ENST00000673000.1:n.667+103_667+106del
ENST00000673531.1:c.309+103_309+106del	ENSP00000500163.1:n.309+103_309+106del
ENST00000265838.8:c.579+103_579+106del	ENSP00000265838.4:n.579+103_579+106del
ENST00000528370.1:c.488_491del
ENST00000531813.5:c.*52+103_*52+106del	ENSP00000435965.1:n.*52+103_*52+106del
ENST00000532792.5:n.74+103_74+106del
ENST00000534773.1:n.322+103_322+106del
NM_000019.3:c.579+103_579+106del	NP_000010.1:n.579+103_579+106del
XM_006718834.2:c.309+103_309+106del	XP_006718897.1:n.309+103_309+106del
XM_006718835.2:c.309+103_309+106del	XP_006718898.1:n.309+103_309+106del
XM_006718835.3:c.309+103_309+106del	XP_006718898.1:n.309+103_309+106del
XM_017017681.1:c.309+103_309+106del	XP_016873170.1:n.309+103_309+106del
XM_017017682.2:c.201+103_201+106del	XP_016873171.1:n.201+103_201+106del
XM_017017683.2:c.201+103_201+106del	XP_016873172.1:n.201+103_201+106del
XM_024448511.1:c.309+103_309+106del	XP_024304279.1:n.309+103_309+106del
XM_024448512.1:c.309+103_309+106del	XP_024304280.1:n.309+103_309+106del
XM_024448513.1:c.309+103_309+106del	XP_024304281.1:n.309+103_309+106del
XM_024448514.1:c.309+103_309+106del	XP_024304282.1:n.309+103_309+106del
XM_024448515.1:c.309+103_309+106del	XP_024304283.1:n.309+103_309+106del
NM_000019.4:c.579+103_579+106del MANE Select	NP_000010.1:n.579+103_579+106del
NM_001386677.1:c.579+103_579+106del	NP_001373606.1:n.579+103_579+106del
NM_001386678.1:c.264+103_264+106del	NP_001373607.1:n.264+103_264+106del
NM_001386679.1:c.282+103_282+106del	NP_001373608.1:n.282+103_282+106del
NM_001386681.1:c.309+103_309+106del	NP_001373610.1:n.309+103_309+106del
NM_001386682.1:c.309+103_309+106del	NP_001373611.1:n.309+103_309+106del
NM_001386685.1:c.309+103_309+106del	NP_001373614.1:n.309+103_309+106del
NM_001386686.1:c.309+103_309+106del	NP_001373615.1:n.309+103_309+106del
NM_001386687.1:c.309+103_309+106del	NP_001373616.1:n.309+103_309+106del
NM_001386688.1:c.309+103_309+106del	NP_001373617.1:n.309+103_309+106del
NM_001386689.1:c.309+103_309+106del	NP_001373618.1:n.309+103_309+106del
NM_001386690.1:c.309+103_309+106del	NP_001373619.1:n.309+103_309+106del
NM_001386691.1:c.309+103_309+106del	NP_001373620.1:n.309+103_309+106del
NR_170162.1:n.619+103_619+106del
NR_170163.1:n.612+103_612+106del