Canonical Allele Identifier: CA2657544033

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455140-GACCTGCACGCCATGTGGGTCAGGGGCCAGGGCTCAGCGGTCAGGGTGCACAGTCCCGGCCCACCCACACAGCGGCCTGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455146_50455226del , CM000684.2:g.50455146_50455226del	GRCh38
NC_000022.10:g.50893575_50893655del , CM000684.1:g.50893575_50893655del	GRCh37
NC_000022.9:g.49240441_49240521del	NCBI36
NG_041810.1:g.24851_24931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4476+3_4478del
ENST00000418590.4:c.186+3_188del
ENST00000470434.2:n.879_959del
ENST00000684986.1:c.4557+3_4559del
ENST00000685180.1:n.2488+5313_2488+5393del
ENST00000685390.1:n.2522+3_2524del
ENST00000685411.1:n.226_306del
ENST00000685592.1:c.788+3_790del
ENST00000685809.1:c.4467+3_4469del
ENST00000686029.1:c.632+3_634del
ENST00000686191.1:n.3754+3_3756del
ENST00000686222.1:c.*3976+3_*3978del
ENST00000686321.1:c.650+3_652del
ENST00000686427.1:c.*1489+3_*1491del
ENST00000686758.1:n.2219_2299del
ENST00000686801.1:c.4542+3_4544del
ENST00000686826.1:n.873+3_875del
ENST00000687016.1:c.4455+3_4457del
ENST00000687704.1:c.*2279+3_*2281del
ENST00000688066.1:c.4554+3_4556del
ENST00000688124.1:c.*3472+3_*3474del
ENST00000688848.1:c.*3898+3_*3900del
ENST00000688985.1:c.1555+3_1557del
ENST00000689129.1:c.4479+3_4481del
ENST00000689177.1:n.5826+3_5828del
ENST00000689849.1:c.650+3_652del
ENST00000689981.1:c.4554+3_4556del
ENST00000690369.1:n.4572+3_4574del
ENST00000690590.1:n.1601+3_1603del
ENST00000690990.1:c.4548+3_4550del
ENST00000691233.1:c.4473+3_4475del
ENST00000691306.1:c.652+3_654del
ENST00000691345.1:n.2302+995_2302+1075del
ENST00000691792.1:c.4554+3_4555-11del
ENST00000691959.1:n.5273+3_5275del
ENST00000692844.1:n.1638+3_1640del
ENST00000692946.1:c.650+3_652del
ENST00000693052.1:c.4572+3_4574del
ENST00000693289.1:n.1713+3_1715del
ENST00000693440.1:c.4551+3_4553del
ENST00000693499.1:n.5479+3_5481del
ENST00000693591.1:n.3291+3_3293del
ENST00000380817.8:c.4554+3_4556del
ENST00000348911.10:c.4479+3_4481del
ENST00000380817.7:c.4554+3_4556del
ENST00000418590.3:c.154+3_156del
ENST00000470434.1:n.695+3_697del
NM_002972.3:c.4554+3_4556del
XM_005261931.1:c.4557+3_4559del
XM_005261935.1:c.4476+3_4478del
XM_011530707.1:c.4656+3_4658del
XM_011530708.1:c.4608+3_4610del
XM_011530709.1:c.4584+3_4586del
XM_011530710.1:c.4581+3_4583del
XM_011530711.1:c.4581+3_4583del
XR_938344.1:n.4674+3_4676del
NM_001365819.1:c.4479+3_4481del
XM_005261935.2:c.4476+3_4478del
XM_011530709.2:c.4584+3_4586del
XM_011530710.2:c.4581+3_4583del
XM_017028905.2:c.4506+3_4508del
NM_002972.4:c.4554+3_4556del