Canonical Allele Identifier: CA2695201142

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 2680540
• ClinVar RCV Id: RCV003475631

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154100_89154107delinsCAGATGC , CM000678.2:g.89154100_89154107delinsCAGATGC	GRCh38
NC_000016.9:g.89220508_89220515delinsCAGATGC , CM000678.1:g.89220508_89220515delinsCAGATGC	GRCh37
NC_000016.8:g.87748009_87748016delinsCAGATGC	NCBI36
NG_031961.1:g.65292_65299delinsCAGATGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1624_1631delinsCAGATGC	ENSP00000320646.4:p.Ala542GlnfsTer?
ENST00000614302.5:c.1624_1631delinsCAGATGC MANE Select	ENSP00000479130.1:p.Ala542GlnfsTer?
ENST00000649953.1:c.1834_1841delinsCAGATGC	ENSP00000497456.1:p.Ala612GlnfsTer?
ENST00000317447.8:c.1624_1631delinsCAGATGC	ENSP00000320646.4:p.Ala542GlnfsTer?
ENST00000378345.8:c.829_836delinsCAGATGC	ENSP00000367596.4:p.Ala277GlnfsTer?
ENST00000393145.5:n.6534_6541delinsCAGATGC
ENST00000406948.7:c.1624_1631delinsCAGATGC	ENSP00000384627.3:p.Ala542GlnfsTer?
ENST00000537116.5:n.750_757delinsCAGATGC
ENST00000537155.1:n.364_371delinsCAGATGC
ENST00000542688.5:c.*368_*375delinsCAGATGC	ENSP00000446281.1:n.*368_*375delinsCAGATG...
ENST00000614302.4:c.1624_1631delinsCAGATGC	ENSP00000479130.1:p.Ala542GlnfsTer?
NM_001127214.3:c.1624_1631delinsCAGATGC	NP_001120686.1:p.Ala542GlnfsTer?
NM_001243279.2:c.1624_1631delinsCAGATGC	NP_001230208.1:p.Ala542GlnfsTer?
NM_001284316.1:c.829_836delinsCAGATGC	NP_001271245.1:p.Ala277GlnfsTer?
NM_174917.4:c.1624_1631delinsCAGATGC	NP_777577.2:p.Ala542GlnfsTer?
NR_045667.2:n.750_757delinsCAGATGC
NR_104293.1:n.2058_2065delinsCAGATGC
XR_933239.1:n.2065_2072delinsCAGATGC
XR_933240.1:n.2062_2069delinsCAGATGC
XR_933241.1:n.1819_1826delinsCAGATGC
NR_147928.1:n.2102_2109delinsCAGATGC
NR_147929.1:n.1856_1863delinsCAGATGC
XM_017023020.2:c.-3481_-3474delinsCAGATGC	XP_016878509.1:n.-3481_-3474delinsCAGATGC...
XM_024450187.1:c.829_836delinsCAGATGC	XP_024305955.1:p.Ala277GlnfsTer?
XR_001751864.2:n.1871_1878delinsCAGATGC
XR_933240.3:n.2061_2068delinsCAGATGC
NM_001127214.4:c.1624_1631delinsCAGATGC	NP_001120686.1:p.Ala542GlnfsTer?
NM_001243279.3:c.1624_1631delinsCAGATGC MANE Select	NP_001230208.1:p.Ala542GlnfsTer?
NM_001284316.2:c.829_836delinsCAGATGC	NP_001271245.1:p.Ala277GlnfsTer?
NM_174917.5:c.1624_1631delinsCAGATGC	NP_777577.2:p.Ala542GlnfsTer?
NR_104293.2:n.2015_2022delinsCAGATGC
NR_147928.2:n.2059_2066delinsCAGATGC
NR_147929.2:n.1813_1820delinsCAGATGC