Canonical Allele Identifier: CA2576118625
Gene: ACSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89146064_89146065del , CM000678.2:g.89146064_89146065del GRCh38
NC_000016.9:g.89212472_89212473del , CM000678.1:g.89212472_89212473del GRCh37
NC_000016.8:g.87739973_87739974del NCBI36
NG_031961.1:g.57256_57257del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1613+15_1613+16del ENSP00000320646.4:n.1613+15_1613+16del
ENST00000614302.5:c.1613+15_1613+16del MANE Select ENSP00000479130.1:n.1613+15_1613+16del
ENST00000649953.1:c.1823+15_1823+16del ENSP00000497456.1:n.1823+15_1823+16del
ENST00000317447.8:c.1613+15_1613+16del ENSP00000320646.4:n.1613+15_1613+16del
ENST00000378345.8:c.818+15_818+16del ENSP00000367596.4:n.818+15_818+16del
ENST00000406948.7:c.1613+15_1613+16del ENSP00000384627.3:n.1613+15_1613+16del
ENST00000535176.1:c.100+15_100+16del
ENST00000537116.5:n.739+15_739+16del
ENST00000537155.1:n.353+15_353+16del
ENST00000542688.5:c.*357+15_*357+16del ENSP00000446281.1:n.*357+15_*357+16del
ENST00000614302.4:c.1613+15_1613+16del ENSP00000479130.1:n.1613+15_1613+16del
NM_001127214.3:c.1613+15_1613+16del NP_001120686.1:n.1613+15_1613+16del
NM_001243279.2:c.1613+15_1613+16del NP_001230208.1:n.1613+15_1613+16del
NM_001284316.1:c.818+15_818+16del NP_001271245.1:n.818+15_818+16del
NM_174917.4:c.1613+15_1613+16del NP_777577.2:n.1613+15_1613+16del
NR_045667.2:n.739+15_739+16del
NR_104293.1:n.2047+15_2047+16del
XM_005256293.1:c.1613+15_1613+16del XP_005256350.1:n.1613+15_1613+16del
XM_011522942.1:c.1613+15_1613+16del XP_011521244.1:n.1613+15_1613+16del
XM_011522943.1:c.1613+15_1613+16del XP_011521245.1:n.1613+15_1613+16del
XR_933239.1:n.2054+15_2054+16del
XR_933240.1:n.2051+15_2051+16del
XR_933241.1:n.1808+15_1808+16del
NR_147928.1:n.2091+15_2091+16del
NR_147929.1:n.1845+15_1845+16del
XM_005256293.2:c.1613+15_1613+16del XP_005256350.1:n.1613+15_1613+16del
XM_017023018.1:c.1613+15_1613+16del XP_016878507.1:n.1613+15_1613+16del
XM_017023019.1:c.1613+15_1613+16del XP_016878508.1:n.1613+15_1613+16del
XM_017023020.2:c.-3492+15_-3492+16del XP_016878509.1:n.-3492+15_-3492+16del
XM_017023022.1:c.746+15_746+16del XP_016878511.1:n.746+15_746+16del
XM_024450186.1:c.818+15_818+16del XP_024305954.1:n.818+15_818+16del
XM_024450187.1:c.818+15_818+16del XP_024305955.1:n.818+15_818+16del
XR_001751864.2:n.1860+15_1860+16del
XR_001751865.1:n.1807+15_1807+16del
XR_933240.3:n.2050+15_2050+16del
NM_001127214.4:c.1613+15_1613+16del NP_001120686.1:n.1613+15_1613+16del
NM_001243279.3:c.1613+15_1613+16del MANE Select NP_001230208.1:n.1613+15_1613+16del
NM_001284316.2:c.818+15_818+16del NP_001271245.1:n.818+15_818+16del
NM_174917.5:c.1613+15_1613+16del NP_777577.2:n.1613+15_1613+16del
NR_104293.2:n.2004+15_2004+16del
NR_147928.2:n.2048+15_2048+16del
NR_147929.2:n.1802+15_1802+16del