Canonical Allele Identifier: CA2615845055

Gene: ACAT1

Linked Data

• gnomAD v4: 11-108147323-AATAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147324_108147327del , CM000673.2:g.108147324_108147327del	GRCh38
NC_000011.9:g.108018051_108018054del , CM000673.1:g.108018051_108018054del	GRCh37
NC_000011.8:g.107523261_107523264del	NCBI36
NG_009888.1:g.30794_30797del
NG_009888.2:g.35620_35623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1218_1221del MANE Select	ENSP00000265838.4:p.Tyr407ValfsTer16
ENST00000671707.1:n.1313_1316del
ENST00000672031.1:c.*205_*208del	ENSP00000500463.1:n.*205_*208del
ENST00000672284.1:c.948_951del	ENSP00000500444.1:p.Tyr317ValfsTer16
ENST00000672354.1:c.1239_1242del	ENSP00000500490.1:p.Tyr414ValfsTer16
ENST00000672367.1:c.855_858del	ENSP00000500209.1:p.Tyr286ValfsTer16
ENST00000672580.1:c.*473_*476del	ENSP00000500366.1:n.*473_*476del
ENST00000672907.1:c.903_906del	ENSP00000500928.1:p.Tyr302ValfsTer16
ENST00000673000.1:n.1306_1309del
ENST00000673531.1:c.948_951del	ENSP00000500163.1:p.Tyr317ValfsTer16
ENST00000265838.8:c.1218_1221del	ENSP00000265838.4:p.Tyr407ValfsTer16
ENST00000533597.1:n.294_297del
NM_000019.3:c.1218_1221del	NP_000010.1:p.Tyr407ValfsTer16
XM_006718834.2:c.948_951del	XP_006718897.1:p.Tyr317ValfsTer16
XM_006718835.2:c.948_951del	XP_006718898.1:p.Tyr317ValfsTer16
XM_006718835.3:c.948_951del	XP_006718898.1:p.Tyr317ValfsTer16
XM_017017681.1:c.948_951del	XP_016873170.1:p.Tyr317ValfsTer16
XM_017017682.2:c.840_843del	XP_016873171.1:p.Tyr281ValfsTer16
XM_017017683.2:c.840_843del	XP_016873172.1:p.Tyr281ValfsTer16
XM_024448511.1:c.948_951del	XP_024304279.1:p.Tyr317ValfsTer16
XM_024448512.1:c.948_951del	XP_024304280.1:p.Tyr317ValfsTer16
XM_024448513.1:c.948_951del	XP_024304281.1:p.Tyr317ValfsTer16
XM_024448514.1:c.948_951del	XP_024304282.1:p.Tyr317ValfsTer16
XM_024448515.1:c.948_951del	XP_024304283.1:p.Tyr317ValfsTer16
NM_000019.4:c.1218_1221del MANE Select	NP_000010.1:p.Tyr407ValfsTer16
NM_001386677.1:c.1239_1242del	NP_001373606.1:p.Tyr414ValfsTer16
NM_001386678.1:c.903_906del	NP_001373607.1:p.Tyr302ValfsTer16
NM_001386679.1:c.921_924del	NP_001373608.1:p.Tyr308ValfsTer16
NM_001386681.1:c.948_951del	NP_001373610.1:p.Tyr317ValfsTer16
NM_001386682.1:c.948_951del	NP_001373611.1:p.Tyr317ValfsTer16
NM_001386685.1:c.948_951del	NP_001373614.1:p.Tyr317ValfsTer16
NM_001386686.1:c.948_951del	NP_001373615.1:p.Tyr317ValfsTer16
NM_001386687.1:c.948_951del	NP_001373616.1:p.Tyr317ValfsTer16
NM_001386688.1:c.948_951del	NP_001373617.1:p.Tyr317ValfsTer16
NM_001386689.1:c.948_951del	NP_001373618.1:p.Tyr317ValfsTer16
NM_001386690.1:c.948_951del	NP_001373619.1:p.Tyr317ValfsTer16
NM_001386691.1:c.948_951del	NP_001373620.1:p.Tyr317ValfsTer16
NR_170162.1:n.1193_1196del
NR_170163.1:n.1251_1254del