Canonical Allele Identifier: CA2410864023

Gene: SBF1

Linked Data

• dbSNP Id: rs2067195246

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455089del , CM000684.2:g.50455089del	GRCh38
NC_000022.10:g.50893518del , CM000684.1:g.50893518del	GRCh37
NC_000022.9:g.49240384del	NCBI36
NG_041810.1:g.24984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4531del	ENSP00000252027.8:p.Leu1511SerfsTer?
ENST00000418590.4:c.241del	ENSP00000401538.2:p.Leu81SerfsTer?
ENST00000470434.2:n.1012del
ENST00000684986.1:c.4612del	ENSP00000509117.1:p.Leu1538SerfsTer?
ENST00000685180.1:n.2488+5446del
ENST00000685390.1:n.2577del
ENST00000685411.1:n.359del
ENST00000685592.1:c.843del
ENST00000685809.1:c.4522del	ENSP00000508863.1:p.Leu1508SerfsTer?
ENST00000686029.1:c.687del
ENST00000686191.1:n.3809del
ENST00000686222.1:c.*4031del	ENSP00000508737.1:n.*4031del
ENST00000686321.1:c.705del
ENST00000686427.1:c.*1544del	ENSP00000510379.1:n.*1544del
ENST00000686758.1:n.2352del
ENST00000686801.1:c.4597del	ENSP00000509915.1:p.Leu1533SerfsTer?
ENST00000686826.1:n.928del
ENST00000687016.1:c.4510del	ENSP00000509074.1:p.Leu1504SerfsTer?
ENST00000687704.1:c.*2334del	ENSP00000510454.1:n.*2334del
ENST00000688066.1:c.4609del	ENSP00000510782.1:p.Leu1537SerfsTer?
ENST00000688124.1:c.*3527del	ENSP00000510645.1:n.*3527del
ENST00000688848.1:c.*3953del	ENSP00000509419.1:n.*3953del
ENST00000688985.1:c.1610del	ENSP00000510477.1:n.1610del
ENST00000689129.1:c.4534del	ENSP00000510414.1:p.Leu1512SerfsTer?
ENST00000689177.1:n.5881del
ENST00000689849.1:c.705del
ENST00000689981.1:c.4609del	ENSP00000509035.1:p.Leu1537SerfsTer?
ENST00000690369.1:n.4627del
ENST00000690590.1:n.1656del
ENST00000690990.1:c.4603del	ENSP00000510461.1:p.Leu1535SerfsTer?
ENST00000691233.1:c.4528del	ENSP00000509215.1:p.Leu1510SerfsTer?
ENST00000691306.1:c.707del
ENST00000691345.1:n.2302+1128del
ENST00000691792.1:c.4597del	ENSP00000509911.1:p.Leu1533SerfsTer?
ENST00000691959.1:n.5328del
ENST00000692844.1:n.1693del
ENST00000692946.1:c.705del
ENST00000693052.1:c.4627del	ENSP00000509558.1:p.Leu1543SerfsTer?
ENST00000693289.1:n.1768del
ENST00000693440.1:c.4606del	ENSP00000509462.1:p.Leu1536SerfsTer?
ENST00000693499.1:n.5534del
ENST00000693591.1:n.3346del
ENST00000380817.8:c.4609del MANE Select	ENSP00000370196.2:p.Leu1537SerfsTer?
ENST00000348911.10:c.4534del	ENSP00000252027.7:p.Leu1512SerfsTer?
ENST00000380817.7:c.4609del	ENSP00000370196.2:p.Leu1537SerfsTer?
ENST00000418590.3:c.209del
ENST00000470434.1:n.750del
NM_002972.3:c.4609del	NP_002963.2:p.Leu1537SerfsTer?
XM_005261931.1:c.4612del	XP_005261988.1:p.Leu1538SerfsTer?
XM_005261935.1:c.4531del	XP_005261992.1:p.Leu1511SerfsTer?
XM_011530707.1:c.4711del	XP_011529009.1:p.Leu1571SerfsTer?
XM_011530708.1:c.4663del	XP_011529010.1:p.Leu1555SerfsTer?
XM_011530709.1:c.4639del	XP_011529011.1:p.Leu1547SerfsTer?
XM_011530710.1:c.4636del	XP_011529012.1:p.Leu1546SerfsTer?
XM_011530711.1:c.4636del	XP_011529013.1:p.Leu1546SerfsTer?
XR_938344.1:n.4729del
NM_001365819.1:c.4534del	NP_001352748.1:p.Leu1512SerfsTer?
XM_005261935.2:c.4531del	XP_005261992.1:p.Leu1511SerfsTer?
XM_011530709.2:c.4639del	XP_011529011.1:p.Leu1547SerfsTer?
XM_011530710.2:c.4636del	XP_011529012.1:p.Leu1546SerfsTer?
XM_017028905.2:c.4561del	XP_016884394.1:p.Leu1521SerfsTer?
NM_002972.4:c.4609del MANE Select	NP_002963.2:p.Leu1537SerfsTer?