Canonical Allele Identifier: CA2615844545

Gene: ACAT1

Linked Data

• gnomAD v4: 11-108146415-A-AAACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146418_108146422dup , CM000673.2:g.108146418_108146422dup	GRCh38
NC_000011.9:g.108017145_108017149dup , CM000673.1:g.108017145_108017149dup	GRCh37
NC_000011.8:g.107522355_107522359dup	NCBI36
NG_009888.1:g.29888_29892dup
NG_009888.2:g.34714_34718dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1163+59_1163+63dup MANE Select	ENSP00000265838.4:n.1163+59_1163+63dup
ENST00000671707.1:n.1258+59_1258+63dup
ENST00000672031.1:c.*150+59_*150+63dup	ENSP00000500463.1:n.*150+59_*150+63dup
ENST00000672284.1:c.893+59_893+63dup	ENSP00000500444.1:n.893+59_893+63dup
ENST00000672354.1:c.1163+59_1163+63dup	ENSP00000500490.1:n.1163+59_1163+63dup
ENST00000672367.1:c.800+59_800+63dup	ENSP00000500209.1:n.800+59_800+63dup
ENST00000672580.1:c.*418+59_*418+63dup	ENSP00000500366.1:n.*418+59_*418+63dup
ENST00000672907.1:c.848+59_848+63dup	ENSP00000500928.1:n.848+59_848+63dup
ENST00000673000.1:n.1251+59_1251+63dup
ENST00000673531.1:c.893+59_893+63dup	ENSP00000500163.1:n.893+59_893+63dup
ENST00000265838.8:c.1163+59_1163+63dup	ENSP00000265838.4:n.1163+59_1163+63dup
ENST00000533597.1:n.239+59_239+63dup
NM_000019.3:c.1163+59_1163+63dup	NP_000010.1:n.1163+59_1163+63dup
XM_006718834.2:c.893+59_893+63dup	XP_006718897.1:n.893+59_893+63dup
XM_006718835.2:c.893+59_893+63dup	XP_006718898.1:n.893+59_893+63dup
XM_006718835.3:c.893+59_893+63dup	XP_006718898.1:n.893+59_893+63dup
XM_017017681.1:c.893+59_893+63dup	XP_016873170.1:n.893+59_893+63dup
XM_017017682.2:c.785+59_785+63dup	XP_016873171.1:n.785+59_785+63dup
XM_017017683.2:c.785+59_785+63dup	XP_016873172.1:n.785+59_785+63dup
XM_024448511.1:c.893+59_893+63dup	XP_024304279.1:n.893+59_893+63dup
XM_024448512.1:c.893+59_893+63dup	XP_024304280.1:n.893+59_893+63dup
XM_024448513.1:c.893+59_893+63dup	XP_024304281.1:n.893+59_893+63dup
XM_024448514.1:c.893+59_893+63dup	XP_024304282.1:n.893+59_893+63dup
XM_024448515.1:c.893+59_893+63dup	XP_024304283.1:n.893+59_893+63dup
NM_000019.4:c.1163+59_1163+63dup MANE Select	NP_000010.1:n.1163+59_1163+63dup
NM_001386677.1:c.1163+59_1163+63dup	NP_001373606.1:n.1163+59_1163+63dup
NM_001386678.1:c.848+59_848+63dup	NP_001373607.1:n.848+59_848+63dup
NM_001386679.1:c.866+59_866+63dup	NP_001373608.1:n.866+59_866+63dup
NM_001386681.1:c.893+59_893+63dup	NP_001373610.1:n.893+59_893+63dup
NM_001386682.1:c.893+59_893+63dup	NP_001373611.1:n.893+59_893+63dup
NM_001386685.1:c.893+59_893+63dup	NP_001373614.1:n.893+59_893+63dup
NM_001386686.1:c.893+59_893+63dup	NP_001373615.1:n.893+59_893+63dup
NM_001386687.1:c.893+59_893+63dup	NP_001373616.1:n.893+59_893+63dup
NM_001386688.1:c.893+59_893+63dup	NP_001373617.1:n.893+59_893+63dup
NM_001386689.1:c.893+59_893+63dup	NP_001373618.1:n.893+59_893+63dup
NM_001386690.1:c.893+59_893+63dup	NP_001373619.1:n.893+59_893+63dup
NM_001386691.1:c.893+59_893+63dup	NP_001373620.1:n.893+59_893+63dup
NR_170162.1:n.1138+59_1138+63dup
NR_170163.1:n.1196+59_1196+63dup