Canonical Allele Identifier: CA658799566
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50447581_50447582del , CM000684.2:g.50447581_50447582del GRCh38
NC_000022.10:g.50886010_50886011del , CM000684.1:g.50886010_50886011del GRCh37
NC_000022.9:g.49232876_49232877del NCBI36
NG_041810.1:g.32493_32494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000348911.11:c.5316_5317del ENSP00000252027.8:p.Ala1773LeufsTer?
ENST00000418590.4:c.990_991del ENSP00000401538.2:p.Ala331LeufsTer?
ENST00000470434.2:n.1797_1798del
ENST00000473724.2:n.533_534del
ENST00000684986.1:c.5397_5398del ENSP00000509117.1:p.Ala1800LeufsTer?
ENST00000685180.1:n.2937_2938del
ENST00000685390.1:n.3345_3346del
ENST00000685411.1:n.1767_1768del
ENST00000685459.1:c.546_547del ENSP00000509511.1:p.Ala183LeufsTer?
ENST00000685592.1:c.1644_1645del
ENST00000685809.1:c.5307_5308del ENSP00000508863.1:p.Ala1770LeufsTer?
ENST00000686191.1:n.4594_4595del
ENST00000686222.1:c.*4816_*4817del ENSP00000508737.1:n.*4816_*4817del
ENST00000686321.1:c.1707_1708del
ENST00000686427.1:c.*2326_*2327del ENSP00000510379.1:n.*2326_*2327del
ENST00000686758.1:n.3208_3209del
ENST00000686801.1:c.*232_*233del ENSP00000509915.1:n.*232_*233del
ENST00000686826.1:n.1713_1714del
ENST00000687016.1:c.5292_5293del ENSP00000509074.1:p.Ala1765LeufsTer?
ENST00000687704.1:c.*3190_*3191del ENSP00000510454.1:n.*3190_*3191del
ENST00000688066.1:c.5394_5395del ENSP00000510782.1:p.Ala1799LeufsTer?
ENST00000688124.1:c.*4295_*4296del ENSP00000510645.1:n.*4295_*4296del
ENST00000688381.1:c.546_547del ENSP00000508847.1:p.Ala183LeufsTer?
ENST00000688848.1:c.*4738_*4739del ENSP00000509419.1:n.*4738_*4739del
ENST00000688985.1:c.2395_2396del ENSP00000510477.1:n.2395_2396del
ENST00000689129.1:c.5319_5320del ENSP00000510414.1:p.Ala1774LeufsTer?
ENST00000689177.1:n.6663_6664del
ENST00000689849.1:c.1479_1480del
ENST00000689981.1:c.5394_5395del ENSP00000509035.1:p.Ala1799LeufsTer?
ENST00000690369.1:n.5412_5413del
ENST00000690590.1:n.2441_2442del
ENST00000690990.1:c.5388_5389del ENSP00000510461.1:p.Ala1797LeufsTer?
ENST00000691233.1:c.5313_5314del ENSP00000509215.1:p.Ala1772LeufsTer?
ENST00000691345.1:n.2653_2654del
ENST00000691792.1:c.5379_5380del ENSP00000509911.1:p.Ala1794LeufsTer?
ENST00000691959.1:n.6736_6737del
ENST00000692844.1:n.2478_2479del
ENST00000692946.1:c.1490_1491del
ENST00000693052.1:c.5412_5413del ENSP00000509558.1:p.Ala1805LeufsTer?
ENST00000693068.1:c.477_478del ENSP00000509997.1:p.Ala160LeufsTer?
ENST00000693440.1:c.5391_5392del ENSP00000509462.1:p.Ala1798LeufsTer?
ENST00000693591.1:n.4202_4203del
ENST00000380817.8:c.5394_5395del MANE Select ENSP00000370196.2:p.Ala1799LeufsTer?
ENST00000348911.10:c.5319_5320del ENSP00000252027.7:p.Ala1774LeufsTer?
ENST00000380817.7:c.5394_5395del ENSP00000370196.2:p.Ala1799LeufsTer?
ENST00000418590.3:c.958_959del
ENST00000470434.1:n.1535_1536del
ENST00000473724.1:n.31_32del
NM_002972.3:c.5394_5395del NP_002963.2:p.Ala1799LeufsTer?
XM_005261931.1:c.5397_5398del XP_005261988.1:p.Ala1800LeufsTer?
XM_005261935.1:c.5316_5317del XP_005261992.1:p.Ala1773LeufsTer?
XM_011530707.1:c.5496_5497del XP_011529009.1:p.Ala1833LeufsTer?
XM_011530708.1:c.5448_5449del XP_011529010.1:p.Ala1817LeufsTer?
XM_011530709.1:c.5424_5425del XP_011529011.1:p.Ala1809LeufsTer?
XM_011530710.1:c.5421_5422del XP_011529012.1:p.Ala1808LeufsTer?
XM_011530711.1:c.5421_5422del XP_011529013.1:p.Ala1808LeufsTer?
XR_938344.1:n.5514_5515del
NM_001365819.1:c.5319_5320del NP_001352748.1:p.Ala1774LeufsTer?
XM_005261935.2:c.5316_5317del XP_005261992.1:p.Ala1773LeufsTer?
XM_011530709.2:c.5424_5425del XP_011529011.1:p.Ala1809LeufsTer?
XM_011530710.2:c.5421_5422del XP_011529012.1:p.Ala1808LeufsTer?
XM_017028905.2:c.5346_5347del XP_016884394.1:p.Ala1783LeufsTer?
NM_002972.4:c.5394_5395del MANE Select NP_002963.2:p.Ala1799LeufsTer?