Canonical Allele Identifier: CA2576118725
Gene: ACSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89154108_89154122del , CM000678.2:g.89154108_89154122del GRCh38
NC_000016.9:g.89220516_89220530del , CM000678.1:g.89220516_89220530del GRCh37
NC_000016.8:g.87748017_87748031del NCBI36
NG_031961.1:g.65300_65314del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1632_1646del ENSP00000320646.4:p.Tyr544Ter
ENST00000614302.5:c.1632_1646del MANE Select ENSP00000479130.1:p.Tyr544Ter
ENST00000649953.1:c.1842_1856del ENSP00000497456.1:p.Tyr614Ter
ENST00000317447.8:c.1632_1646del ENSP00000320646.4:p.Tyr544Ter
ENST00000378345.8:c.837_851del ENSP00000367596.4:p.Tyr279Ter
ENST00000393145.5:n.6542_6556del
ENST00000406948.7:c.1632_1646del ENSP00000384627.3:p.Tyr544Ter
ENST00000537116.5:n.758_772del
ENST00000537155.1:n.372_386del
ENST00000542688.5:c.*376_*390del ENSP00000446281.1:n.*376_*390del
ENST00000614302.4:c.1632_1646del ENSP00000479130.1:p.Tyr544Ter
NM_001127214.3:c.1632_1646del NP_001120686.1:p.Tyr544Ter
NM_001243279.2:c.1632_1646del NP_001230208.1:p.Tyr544Ter
NM_001284316.1:c.837_851del NP_001271245.1:p.Tyr279Ter
NM_174917.4:c.1632_1646del NP_777577.2:p.Tyr544Ter
NR_045667.2:n.758_772del
NR_104293.1:n.2066_2080del
XR_933239.1:n.2073_2087del
XR_933240.1:n.2070_2084del
XR_933241.1:n.1827_1841del
NR_147928.1:n.2110_2124del
NR_147929.1:n.1864_1878del
XM_017023020.2:c.-3473_-3459del XP_016878509.1:n.-3473_-3459del
XM_024450187.1:c.837_851del XP_024305955.1:p.Tyr279Ter
XR_001751864.2:n.1879_1893del
XR_933240.3:n.2069_2083del
NM_001127214.4:c.1632_1646del NP_001120686.1:p.Tyr544Ter
NM_001243279.3:c.1632_1646del MANE Select NP_001230208.1:p.Tyr544Ter
NM_001284316.2:c.837_851del NP_001271245.1:p.Tyr279Ter
NM_174917.5:c.1632_1646del NP_777577.2:p.Tyr544Ter
NR_104293.2:n.2023_2037del
NR_147928.2:n.2067_2081del
NR_147929.2:n.1821_1835del