Canonical Allele Identifier: CA2615812649

Gene: ACAT1

Linked Data

• gnomAD v4: 11-108134347-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108134351del , CM000673.2:g.108134351del	GRCh38
NC_000011.9:g.108005078del , CM000673.1:g.108005078del	GRCh37
NC_000011.8:g.107510288del	NCBI36
NG_009888.1:g.17821del
NG_009888.2:g.22647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.334+35del MANE Select	ENSP00000265838.4:n.334+35del
ENST00000671707.1:n.429+35del
ENST00000672008.1:c.314+55del	ENSP00000500499.1:n.314+55del
ENST00000672031.1:c.334+35del	ENSP00000500463.1:n.334+35del
ENST00000672284.1:c.64+35del	ENSP00000500444.1:n.64+35del
ENST00000672354.1:c.334+35del	ENSP00000500490.1:n.334+35del
ENST00000672367.1:c.73-4547del	ENSP00000500209.1:n.73-4547del
ENST00000672580.1:c.334+35del	ENSP00000500366.1:n.334+35del
ENST00000672907.1:c.120+2397del	ENSP00000500928.1:n.120+2397del
ENST00000673000.1:n.422+35del
ENST00000673531.1:c.64+35del	ENSP00000500163.1:n.64+35del
ENST00000265838.8:c.334+35del	ENSP00000265838.4:n.334+35del
ENST00000299355.10:c.334+35del	ENSP00000299355.6:n.334+35del
ENST00000524833.5:n.409del
ENST00000527942.5:c.64+35del	ENSP00000433568.1:n.64+35del
ENST00000528370.1:c.140+35del
ENST00000531813.5:c.334+35del	ENSP00000435965.1:n.334+35del
NM_000019.3:c.334+35del	NP_000010.1:n.334+35del
XM_006718834.2:c.64+35del	XP_006718897.1:n.64+35del
XM_006718835.2:c.64+35del	XP_006718898.1:n.64+35del
XM_006718835.3:c.64+35del	XP_006718898.1:n.64+35del
XM_017017681.1:c.64+35del	XP_016873170.1:n.64+35del
XM_017017682.2:c.57+35del	XP_016873171.1:n.57+35del
XM_017017683.2:c.57+35del	XP_016873172.1:n.57+35del
XM_024448511.1:c.64+35del	XP_024304279.1:n.64+35del
XM_024448512.1:c.64+35del	XP_024304280.1:n.64+35del
XM_024448513.1:c.64+35del	XP_024304281.1:n.64+35del
XM_024448514.1:c.64+35del	XP_024304282.1:n.64+35del
XM_024448515.1:c.64+35del	XP_024304283.1:n.64+35del
NM_000019.4:c.334+35del MANE Select	NP_000010.1:n.334+35del
NM_001386677.1:c.334+35del	NP_001373606.1:n.334+35del
NM_001386678.1:c.120+2397del	NP_001373607.1:n.120+2397del
NM_001386679.1:c.37+55del	NP_001373608.1:n.37+55del
NM_001386681.1:c.64+35del	NP_001373610.1:n.64+35del
NM_001386682.1:c.64+35del	NP_001373611.1:n.64+35del
NM_001386685.1:c.64+35del	NP_001373614.1:n.64+35del
NM_001386686.1:c.64+35del	NP_001373615.1:n.64+35del
NM_001386687.1:c.64+35del	NP_001373616.1:n.64+35del
NM_001386688.1:c.64+35del	NP_001373617.1:n.64+35del
NM_001386689.1:c.64+35del	NP_001373618.1:n.64+35del
NM_001386690.1:c.64+35del	NP_001373619.1:n.64+35del
NM_001386691.1:c.64+35del	NP_001373620.1:n.64+35del
NR_170162.1:n.374+35del
NR_170163.1:n.468+35del