Canonical Allele Identifier: CA2819317027
Community Standard Title: NM_002972.4(SBF1):c.55+89_55+110del
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50474680_50474701del , CM000684.2:g.50474680_50474701del GRCh38
NC_000022.10:g.50913109_50913130del , CM000684.1:g.50913109_50913130del GRCh37
NC_000022.9:g.49259975_49259996del NCBI36
NG_041810.1:g.5375_5396del

Transcript Alleles

HGVS Amino-acid Change
NM_002972.4:c.55+89_55+110del MANE Select NP_002963.2:n.55+89_55+110del
ENST00000380817.8:c.55+89_55+110del MANE Select ENSP00000370196.2:n.55+89_55+110del
NM_001365819.1:c.55+89_55+110del NP_001352748.1:n.55+89_55+110del
NM_002972.3:c.55+89_55+110del NP_002963.2:n.55+89_55+110del
ENST00000348911.10:c.55+89_55+110del ENSP00000252027.7:n.55+89_55+110del
ENST00000348911.11:c.55+89_55+110del ENSP00000252027.8:n.55+89_55+110del
ENST00000380817.7:c.55+89_55+110del ENSP00000370196.2:n.55+89_55+110del
ENST00000399627.3:n.64+89_64+110del
ENST00000399627.4:n.64+89_64+110del
ENST00000684986.1:c.55+89_55+110del ENSP00000509117.1:n.55+89_55+110del
ENST00000685180.1:n.132-7004_132-6983del
ENST00000685809.1:c.55+89_55+110del ENSP00000508863.1:n.55+89_55+110del
ENST00000686222.1:c.55+89_55+110del ENSP00000508737.1:n.55+89_55+110del
ENST00000686427.1:c.55+89_55+110del ENSP00000510379.1:n.55+89_55+110del
ENST00000686801.1:c.55+89_55+110del ENSP00000509915.1:n.55+89_55+110del
ENST00000687016.1:c.55+89_55+110del ENSP00000509074.1:n.55+89_55+110del
ENST00000687704.1:c.55+89_55+110del ENSP00000510454.1:n.55+89_55+110del
ENST00000688066.1:c.55+89_55+110del ENSP00000510782.1:n.55+89_55+110del
ENST00000688124.1:c.55+89_55+110del ENSP00000510645.1:n.55+89_55+110del
ENST00000688848.1:c.55+89_55+110del ENSP00000509419.1:n.55+89_55+110del
ENST00000689129.1:c.55+89_55+110del ENSP00000510414.1:n.55+89_55+110del
ENST00000689981.1:c.55+89_55+110del ENSP00000509035.1:n.55+89_55+110del
ENST00000690155.1:n.241+89_241+110del
ENST00000690369.1:n.1+89_1+110del
ENST00000690990.1:c.55+89_55+110del ENSP00000510461.1:n.55+89_55+110del
ENST00000691233.1:c.55+89_55+110del ENSP00000509215.1:n.55+89_55+110del
ENST00000691344.1:c.55+89_55+110del ENSP00000509009.1:n.55+89_55+110del
ENST00000691792.1:c.55+89_55+110del ENSP00000509911.1:n.55+89_55+110del
ENST00000693052.1:c.55+89_55+110del ENSP00000509558.1:n.55+89_55+110del
ENST00000693440.1:c.55+89_55+110del ENSP00000509462.1:n.55+89_55+110del
XM_005261931.1:c.55+89_55+110del XP_005261988.1:n.55+89_55+110del
XM_005261935.1:c.55+89_55+110del XP_005261992.1:n.55+89_55+110del
XM_005261935.2:c.55+89_55+110del XP_005261992.1:n.55+89_55+110del
XM_011530708.1:c.106+5303_106+5324del XP_011529010.1:n.106+5303_106+5324del