Canonical Allele Identifier: CA2657543886

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455033-TAGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455036_50455039del , CM000684.2:g.50455036_50455039del	GRCh38
NC_000022.10:g.50893465_50893468del , CM000684.1:g.50893465_50893468del	GRCh37
NC_000022.9:g.49240331_49240334del	NCBI36
NG_041810.1:g.25035_25038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4582_4585del	ENSP00000252027.8:p.Asp1528MetfsTer?
ENST00000418590.4:c.292_295del	ENSP00000401538.2:p.Asp98MetfsTer?
ENST00000470434.2:n.1063_1066del
ENST00000684986.1:c.4663_4666del	ENSP00000509117.1:p.Asp1555MetfsTer?
ENST00000685180.1:n.2488+5497_2488+5500del
ENST00000685390.1:n.2628_2631del
ENST00000685411.1:n.410_413del
ENST00000685592.1:c.894_897del
ENST00000685809.1:c.4573_4576del	ENSP00000508863.1:p.Asp1525MetfsTer?
ENST00000686029.1:c.738_741del
ENST00000686191.1:n.3860_3863del
ENST00000686222.1:c.*4082_*4085del	ENSP00000508737.1:n.*4082_*4085del
ENST00000686321.1:c.756_759del
ENST00000686427.1:c.*1595_*1598del	ENSP00000510379.1:n.*1595_*1598del
ENST00000686758.1:n.2403_2406del
ENST00000686801.1:c.4648_4651del	ENSP00000509915.1:p.Asp1550MetfsTer?
ENST00000686826.1:n.979_982del
ENST00000687016.1:c.4561_4564del	ENSP00000509074.1:p.Asp1521MetfsTer?
ENST00000687704.1:c.*2385_*2388del	ENSP00000510454.1:n.*2385_*2388del
ENST00000688066.1:c.4660_4663del	ENSP00000510782.1:p.Asp1554MetfsTer?
ENST00000688124.1:c.*3578_*3581del	ENSP00000510645.1:n.*3578_*3581del
ENST00000688848.1:c.*4004_*4007del	ENSP00000509419.1:n.*4004_*4007del
ENST00000688985.1:c.1661_1664del	ENSP00000510477.1:n.1661_1664del
ENST00000689129.1:c.4585_4588del	ENSP00000510414.1:p.Asp1529MetfsTer?
ENST00000689177.1:n.5932_5935del
ENST00000689849.1:c.756_759del
ENST00000689981.1:c.4660_4663del	ENSP00000509035.1:p.Asp1554MetfsTer?
ENST00000690369.1:n.4678_4681del
ENST00000690590.1:n.1707_1710del
ENST00000690990.1:c.4654_4657del	ENSP00000510461.1:p.Asp1552MetfsTer?
ENST00000691233.1:c.4579_4582del	ENSP00000509215.1:p.Asp1527MetfsTer?
ENST00000691306.1:c.758_761del
ENST00000691345.1:n.2302+1179_2302+1182del
ENST00000691792.1:c.4648_4651del	ENSP00000509911.1:p.Asp1550MetfsTer?
ENST00000691959.1:n.5379_5382del
ENST00000692844.1:n.1744_1747del
ENST00000692946.1:c.756_759del
ENST00000693052.1:c.4678_4681del	ENSP00000509558.1:p.Asp1560MetfsTer?
ENST00000693289.1:n.1819_1822del
ENST00000693440.1:c.4657_4660del	ENSP00000509462.1:p.Asp1553MetfsTer?
ENST00000693499.1:n.5585_5588del
ENST00000693591.1:n.3397_3400del
ENST00000380817.8:c.4660_4663del MANE Select	ENSP00000370196.2:p.Asp1554MetfsTer?
ENST00000348911.10:c.4585_4588del	ENSP00000252027.7:p.Asp1529MetfsTer?
ENST00000380817.7:c.4660_4663del	ENSP00000370196.2:p.Asp1554MetfsTer?
ENST00000418590.3:c.260_263del
ENST00000470434.1:n.801_804del
NM_002972.3:c.4660_4663del	NP_002963.2:p.Asp1554MetfsTer?
XM_005261931.1:c.4663_4666del	XP_005261988.1:p.Asp1555MetfsTer?
XM_005261935.1:c.4582_4585del	XP_005261992.1:p.Asp1528MetfsTer?
XM_011530707.1:c.4762_4765del	XP_011529009.1:p.Asp1588MetfsTer?
XM_011530708.1:c.4714_4717del	XP_011529010.1:p.Asp1572MetfsTer?
XM_011530709.1:c.4690_4693del	XP_011529011.1:p.Asp1564MetfsTer?
XM_011530710.1:c.4687_4690del	XP_011529012.1:p.Asp1563MetfsTer?
XM_011530711.1:c.4687_4690del	XP_011529013.1:p.Asp1563MetfsTer?
XR_938344.1:n.4780_4783del
NM_001365819.1:c.4585_4588del	NP_001352748.1:p.Asp1529MetfsTer?
XM_005261935.2:c.4582_4585del	XP_005261992.1:p.Asp1528MetfsTer?
XM_011530709.2:c.4690_4693del	XP_011529011.1:p.Asp1564MetfsTer?
XM_011530710.2:c.4687_4690del	XP_011529012.1:p.Asp1563MetfsTer?
XM_017028905.2:c.4612_4615del	XP_016884394.1:p.Asp1538MetfsTer?
NM_002972.4:c.4660_4663del MANE Select	NP_002963.2:p.Asp1554MetfsTer?