Canonical Allele Identifier: CA2410864021

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455087_50455088delinsAG , CM000684.2:g.50455087_50455088delinsAG	GRCh38
NC_000022.10:g.50893516_50893517delinsAG , CM000684.1:g.50893516_50893517delinsAG	GRCh37
NC_000022.9:g.49240382_49240383delinsAG	NCBI36
NG_041810.1:g.24984_24985delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4531_4532delinsCT	ENSP00000252027.8:p.Leu1511=
ENST00000418590.4:c.241_242delinsCT	ENSP00000401538.2:p.Leu81=
ENST00000470434.2:n.1012_1013delinsCT
ENST00000684986.1:c.4612_4613delinsCT	ENSP00000509117.1:p.Leu1538=
ENST00000685180.1:n.2488+5446_2488+5447delinsCT
ENST00000685390.1:n.2577_2578delinsCT
ENST00000685411.1:n.359_360delinsCT
ENST00000685592.1:c.843_844delinsCT
ENST00000685809.1:c.4522_4523delinsCT	ENSP00000508863.1:p.Leu1508=
ENST00000686029.1:c.687_688delinsCT
ENST00000686191.1:n.3809_3810delinsCT
ENST00000686222.1:c.*4031_*4032delinsCT	ENSP00000508737.1:n.*4031_*4032delinsCT
ENST00000686321.1:c.705_706delinsCT
ENST00000686427.1:c.*1544_*1545delinsCT	ENSP00000510379.1:n.*1544_*1545delinsCT
ENST00000686758.1:n.2352_2353delinsCT
ENST00000686801.1:c.4597_4598delinsCT	ENSP00000509915.1:p.Leu1533=
ENST00000686826.1:n.928_929delinsCT
ENST00000687016.1:c.4510_4511delinsCT	ENSP00000509074.1:p.Leu1504=
ENST00000687704.1:c.*2334_*2335delinsCT	ENSP00000510454.1:n.*2334_*2335delinsCT
ENST00000688066.1:c.4609_4610delinsCT	ENSP00000510782.1:p.Leu1537=
ENST00000688124.1:c.*3527_*3528delinsCT	ENSP00000510645.1:n.*3527_*3528delinsCT
ENST00000688848.1:c.*3953_*3954delinsCT	ENSP00000509419.1:n.*3953_*3954delinsCT
ENST00000688985.1:c.1610_1611delinsCT	ENSP00000510477.1:n.1610_1611delinsCT
ENST00000689129.1:c.4534_4535delinsCT	ENSP00000510414.1:p.Leu1512=
ENST00000689177.1:n.5881_5882delinsCT
ENST00000689849.1:c.705_706delinsCT
ENST00000689981.1:c.4609_4610delinsCT	ENSP00000509035.1:p.Leu1537=
ENST00000690369.1:n.4627_4628delinsCT
ENST00000690590.1:n.1656_1657delinsCT
ENST00000690990.1:c.4603_4604delinsCT	ENSP00000510461.1:p.Leu1535=
ENST00000691233.1:c.4528_4529delinsCT	ENSP00000509215.1:p.Leu1510=
ENST00000691306.1:c.707_708delinsCT
ENST00000691345.1:n.2302+1128_2302+1129delinsCT
ENST00000691792.1:c.4597_4598delinsCT	ENSP00000509911.1:p.Leu1533=
ENST00000691959.1:n.5328_5329delinsCT
ENST00000692844.1:n.1693_1694delinsCT
ENST00000692946.1:c.705_706delinsCT
ENST00000693052.1:c.4627_4628delinsCT	ENSP00000509558.1:p.Leu1543=
ENST00000693289.1:n.1768_1769delinsCT
ENST00000693440.1:c.4606_4607delinsCT	ENSP00000509462.1:p.Leu1536=
ENST00000693499.1:n.5534_5535delinsCT
ENST00000693591.1:n.3346_3347delinsCT
ENST00000380817.8:c.4609_4610delinsCT MANE Select	ENSP00000370196.2:p.Leu1537=
ENST00000348911.10:c.4534_4535delinsCT	ENSP00000252027.7:p.Leu1512=
ENST00000380817.7:c.4609_4610delinsCT	ENSP00000370196.2:p.Leu1537=
ENST00000418590.3:c.209_210delinsCT
ENST00000470434.1:n.750_751delinsCT
NM_002972.3:c.4609_4610delinsCT	NP_002963.2:p.Leu1537=
XM_005261931.1:c.4612_4613delinsCT	XP_005261988.1:p.Leu1538=
XM_005261935.1:c.4531_4532delinsCT	XP_005261992.1:p.Leu1511=
XM_011530707.1:c.4711_4712delinsCT	XP_011529009.1:p.Leu1571=
XM_011530708.1:c.4663_4664delinsCT	XP_011529010.1:p.Leu1555=
XM_011530709.1:c.4639_4640delinsCT	XP_011529011.1:p.Leu1547=
XM_011530710.1:c.4636_4637delinsCT	XP_011529012.1:p.Leu1546=
XM_011530711.1:c.4636_4637delinsCT	XP_011529013.1:p.Leu1546=
XR_938344.1:n.4729_4730delinsCT
NM_001365819.1:c.4534_4535delinsCT	NP_001352748.1:p.Leu1512=
XM_005261935.2:c.4531_4532delinsCT	XP_005261992.1:p.Leu1511=
XM_011530709.2:c.4639_4640delinsCT	XP_011529011.1:p.Leu1547=
XM_011530710.2:c.4636_4637delinsCT	XP_011529012.1:p.Leu1546=
XM_017028905.2:c.4561_4562delinsCT	XP_016884394.1:p.Leu1521=
NM_002972.4:c.4609_4610delinsCT MANE Select	NP_002963.2:p.Leu1537=