Canonical Allele Identifier: CA2576118599

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89145324-ACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145330_89145332del , CM000678.2:g.89145330_89145332del	GRCh38
NC_000016.9:g.89211738_89211740del , CM000678.1:g.89211738_89211740del	GRCh37
NC_000016.8:g.87739239_87739241del	NCBI36
NG_031961.1:g.56522_56524del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1430_1432del	ENSP00000320646.4:p.Ile477del
ENST00000614302.5:c.1430_1432del MANE Select	ENSP00000479130.1:p.Ile477del
ENST00000649953.1:c.1640_1642del	ENSP00000497456.1:p.Ile547del
ENST00000317447.8:c.1430_1432del	ENSP00000320646.4:p.Ile477del
ENST00000378345.8:c.635_637del	ENSP00000367596.4:p.Ile212del
ENST00000406948.7:c.1430_1432del	ENSP00000384627.3:p.Ile477del
ENST00000537116.5:n.556_558del
ENST00000537155.1:n.170_172del
ENST00000542688.5:c.*174_*176del	ENSP00000446281.1:n.*174_*176del
ENST00000544543.5:c.635_637del	ENSP00000442781.1:p.Ile212del
ENST00000562204.1:n.403_405del
ENST00000614302.4:c.1430_1432del	ENSP00000479130.1:p.Ile477del
NM_001127214.3:c.1430_1432del	NP_001120686.1:p.Ile477del
NM_001243279.2:c.1430_1432del	NP_001230208.1:p.Ile477del
NM_001284316.1:c.635_637del	NP_001271245.1:p.Ile212del
NM_174917.4:c.1430_1432del	NP_777577.2:p.Ile477del
NR_045667.2:n.556_558del
NR_104293.1:n.1864_1866del
XM_005256293.1:c.1430_1432del	XP_005256350.1:p.Ile477del
XM_011522942.1:c.1430_1432del	XP_011521244.1:p.Ile477del
XM_011522943.1:c.1430_1432del	XP_011521245.1:p.Ile477del
XR_933239.1:n.1871_1873del
XR_933240.1:n.1868_1870del
XR_933241.1:n.1625_1627del
NR_147928.1:n.1908_1910del
NR_147929.1:n.1662_1664del
XM_005256293.2:c.1430_1432del	XP_005256350.1:p.Ile477del
XM_017023018.1:c.1430_1432del	XP_016878507.1:p.Ile477del
XM_017023019.1:c.1430_1432del	XP_016878508.1:p.Ile477del
XM_017023020.2:c.-3675_-3673del	XP_016878509.1:n.-3675_-3673del
XM_017023022.1:c.563_565del	XP_016878511.1:p.Ile188del
XM_024450186.1:c.635_637del	XP_024305954.1:p.Ile212del
XM_024450187.1:c.635_637del	XP_024305955.1:p.Ile212del
XR_001751864.2:n.1677_1679del
XR_001751865.1:n.1624_1626del
XR_933240.3:n.1867_1869del
NM_001127214.4:c.1430_1432del	NP_001120686.1:p.Ile477del
NM_001243279.3:c.1430_1432del MANE Select	NP_001230208.1:p.Ile477del
NM_001284316.2:c.635_637del	NP_001271245.1:p.Ile212del
NM_174917.5:c.1430_1432del	NP_777577.2:p.Ile477del
NR_104293.2:n.1821_1823del
NR_147928.2:n.1865_1867del
NR_147929.2:n.1619_1621del