Canonical Allele Identifier: CA312318
Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 203610
dbSNP Id: rs796051924

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89154194del , CM000678.2:g.89154194del GRCh38
NC_000016.9:g.89220602del , CM000678.1:g.89220602del GRCh37
NC_000016.8:g.87748103del NCBI36
NG_031961.1:g.65386del

Transcript Alleles

HGVS Amino-acid change
ENST00000317447.9:c.1718del ENSP00000320646.4:p.Phe573SerfsTer?
ENST00000614302.5:c.1718del MANE Select ENSP00000479130.1:p.Phe573SerfsTer?
ENST00000649953.1:c.1928del ENSP00000497456.1:p.Phe643SerfsTer?
ENST00000317447.8:c.1718del ENSP00000320646.4:p.Phe573SerfsTer?
ENST00000378345.8:c.923del ENSP00000367596.4:p.Phe308SerfsTer?
ENST00000393145.5:n.6628del
ENST00000406948.7:c.1718del ENSP00000384627.3:p.Phe573SerfsTer?
ENST00000537116.5:n.844del
ENST00000537155.1:n.458del
ENST00000542688.5:c.*462del ENSP00000446281.1:n.*462del
ENST00000614302.4:c.1718del ENSP00000479130.1:p.Phe573SerfsTer?
NM_001127214.3:c.1718del NP_001120686.1:p.Phe573SerfsTer?
NM_001243279.2:c.1718del NP_001230208.1:p.Phe573SerfsTer?
NM_001284316.1:c.923del NP_001271245.1:p.Phe308SerfsTer?
NM_174917.4:c.1718del NP_777577.2:p.Phe573SerfsTer?
NR_045667.2:n.844del
NR_104293.1:n.2152del
XR_933239.1:n.2159del
XR_933240.1:n.2156del
XR_933241.1:n.1913del
NR_147928.1:n.2196del
NR_147929.1:n.1950del
XM_017023020.2:c.-3387del XP_016878509.1:n.-3387del
XM_024450187.1:c.923del XP_024305955.1:p.Phe308SerfsTer?
XR_001751864.2:n.1965del
XR_933240.3:n.2155del
NM_001127214.4:c.1718del NP_001120686.1:p.Phe573SerfsTer?
NM_001243279.3:c.1718del MANE Select NP_001230208.1:p.Phe573SerfsTer?
NM_001284316.2:c.923del NP_001271245.1:p.Phe308SerfsTer?
NM_174917.5:c.1718del NP_777577.2:p.Phe573SerfsTer?
NR_104293.2:n.2109del
NR_147928.2:n.2153del
NR_147929.2:n.1907del