Canonical Allele Identifier: CA1139532418
Gene: ACSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89102711_89102712del , CM000678.2:g.89102711_89102712del GRCh38
NC_000016.9:g.89169119_89169120del , CM000678.1:g.89169119_89169120del GRCh37
NC_000016.8:g.87696620_87696621del NCBI36
NG_031961.1:g.13903_13904del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.774_775del ENSP00000320646.4:p.Trp259GlyfsTer10
ENST00000614302.5:c.774_775del MANE Select ENSP00000479130.1:p.Trp259GlyfsTer10
ENST00000649953.1:c.774_775del ENSP00000497456.1:p.Trp259GlyfsTer10
ENST00000317447.8:c.774_775del ENSP00000320646.4:p.Trp259GlyfsTer10
ENST00000378345.8:c.-22_-21del ENSP00000367596.4:n.-22_-21del
ENST00000406948.7:c.774_775del ENSP00000384627.3:p.Trp259GlyfsTer10
ENST00000537895.5:c.-22_-21del ENSP00000439201.1:n.-22_-21del
ENST00000538340.5:c.99_100del ENSP00000445870.1:p.Trp34GlyfsTer10
ENST00000540697.5:c.-22_-21del ENSP00000445397.1:n.-22_-21del
ENST00000542688.5:c.774_775del ENSP00000446281.1:p.Trp259GlyfsTer10
ENST00000543676.1:c.16_17del
ENST00000544543.5:c.-22_-21del ENSP00000442781.1:n.-22_-21del
ENST00000614302.4:c.774_775del ENSP00000479130.1:p.Trp259GlyfsTer10
NM_001127214.3:c.774_775del NP_001120686.1:p.Trp259GlyfsTer10
NM_001243279.2:c.774_775del NP_001230208.1:p.Trp259GlyfsTer10
NM_001284316.1:c.-22_-21del NP_001271245.1:n.-22_-21del
NM_174917.4:c.774_775del NP_777577.2:p.Trp259GlyfsTer10
NR_104293.1:n.1155_1156del
XM_005256293.1:c.774_775del XP_005256350.1:p.Trp259GlyfsTer10
XM_011522942.1:c.774_775del XP_011521244.1:p.Trp259GlyfsTer10
XM_011522943.1:c.774_775del XP_011521245.1:p.Trp259GlyfsTer10
XM_011522944.1:c.774_775del XP_011521246.1:p.Trp259GlyfsTer10
XR_933238.1:n.1118_1119del
XR_933239.1:n.1118_1119del
XR_933240.1:n.1118_1119del
XR_933241.1:n.1118_1119del
NR_147928.1:n.1155_1156del
NR_147929.1:n.1155_1156del
XM_005256293.2:c.774_775del XP_005256350.1:p.Trp259GlyfsTer10
XM_017023018.1:c.774_775del XP_016878507.1:p.Trp259GlyfsTer10
XM_017023019.1:c.774_775del XP_016878508.1:p.Trp259GlyfsTer10
XM_017023020.2:c.-4235_-4234del XP_016878509.1:n.-4235_-4234del
XM_017023021.1:c.774_775del XP_016878510.1:p.Trp259GlyfsTer10
XM_024450186.1:c.-22_-21del XP_024305954.1:n.-22_-21del
XM_024450187.1:c.-22_-21del XP_024305955.1:n.-22_-21del
XR_001751864.2:n.1117_1118del
XR_001751865.1:n.1117_1118del
XR_933238.2:n.1117_1118del
XR_933240.3:n.1117_1118del
NM_001127214.4:c.774_775del NP_001120686.1:p.Trp259GlyfsTer10
NM_001243279.3:c.774_775del MANE Select NP_001230208.1:p.Trp259GlyfsTer10
NM_001284316.2:c.-22_-21del NP_001271245.1:n.-22_-21del
NM_174917.5:c.774_775del NP_777577.2:p.Trp259GlyfsTer10
NR_104293.2:n.1112_1113del
NR_147928.2:n.1112_1113del
NR_147929.2:n.1112_1113del