Canonical Allele Identifier: CA640356029

Gene: SBF1

Linked Data

• dbSNP Id: rs1284085672
• gnomAD v2: 22-50893584-T-TGGGTCAG
• gnomAD v3: 22-50455155-T-TGGGTCAG
• gnomAD v4: 22-50455155-T-TGGGTCAG
• MyVariant Identifiers: chr22:g.50893584_50893585insGGGTCAG (hg19) ; chr22:g.50455155_50455156insGGGTCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455159_50455165dup , CM000684.2:g.50455159_50455165dup	GRCh38
NC_000022.10:g.50893588_50893594dup , CM000684.1:g.50893588_50893594dup	GRCh37
NC_000022.9:g.49240454_49240460dup	NCBI36
NG_041810.1:g.24910_24916dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4477-20_4477-14dup	ENSP00000252027.8:n.4477-20_4477-14dup
ENST00000418590.4:c.187-20_187-14dup	ENSP00000401538.2:n.187-20_187-14dup
ENST00000470434.2:n.938_944dup
ENST00000684986.1:c.4558-20_4558-14dup	ENSP00000509117.1:n.4558-20_4558-14dup
ENST00000685180.1:n.2488+5372_2488+5378dup
ENST00000685390.1:n.2523-20_2523-14dup
ENST00000685411.1:n.285_291dup
ENST00000685592.1:c.789-20_789-14dup
ENST00000685809.1:c.4468-20_4468-14dup	ENSP00000508863.1:n.4468-20_4468-14dup
ENST00000686029.1:c.633-20_633-14dup
ENST00000686191.1:n.3755-20_3755-14dup
ENST00000686222.1:c.*3977-20_*3977-14dup	ENSP00000508737.1:n.*3977-20_*3977-14dup
ENST00000686321.1:c.651-20_651-14dup
ENST00000686427.1:c.*1490-20_*1490-14dup	ENSP00000510379.1:n.*1490-20_*1490-14dup
ENST00000686758.1:n.2278_2284dup
ENST00000686801.1:c.4543-20_4543-14dup	ENSP00000509915.1:n.4543-20_4543-14dup
ENST00000686826.1:n.874-20_874-14dup
ENST00000687016.1:c.4456-20_4456-14dup	ENSP00000509074.1:n.4456-20_4456-14dup
ENST00000687704.1:c.*2280-20_*2280-14dup	ENSP00000510454.1:n.*2280-20_*2280-14dup
ENST00000688066.1:c.4555-20_4555-14dup	ENSP00000510782.1:n.4555-20_4555-14dup
ENST00000688124.1:c.*3473-20_*3473-14dup	ENSP00000510645.1:n.*3473-20_*3473-14dup
ENST00000688848.1:c.*3899-20_*3899-14dup	ENSP00000509419.1:n.*3899-20_*3899-14dup
ENST00000688985.1:c.1556-20_1556-14dup	ENSP00000510477.1:n.1556-20_1556-14dup
ENST00000689129.1:c.4480-20_4480-14dup	ENSP00000510414.1:n.4480-20_4480-14dup
ENST00000689177.1:n.5827-20_5827-14dup
ENST00000689849.1:c.651-20_651-14dup
ENST00000689981.1:c.4555-20_4555-14dup	ENSP00000509035.1:n.4555-20_4555-14dup
ENST00000690369.1:n.4573-20_4573-14dup
ENST00000690590.1:n.1602-20_1602-14dup
ENST00000690990.1:c.4549-20_4549-14dup	ENSP00000510461.1:n.4549-20_4549-14dup
ENST00000691233.1:c.4474-20_4474-14dup	ENSP00000509215.1:n.4474-20_4474-14dup
ENST00000691306.1:c.653-20_653-14dup
ENST00000691345.1:n.2302+1054_2302+1060dup
ENST00000691792.1:c.4555-32_4555-26dup	ENSP00000509911.1:n.4555-32_4555-26dup
ENST00000691959.1:n.5274-20_5274-14dup
ENST00000692844.1:n.1639-20_1639-14dup
ENST00000692946.1:c.651-20_651-14dup
ENST00000693052.1:c.4573-20_4573-14dup	ENSP00000509558.1:n.4573-20_4573-14dup
ENST00000693289.1:n.1714-20_1714-14dup
ENST00000693440.1:c.4552-20_4552-14dup	ENSP00000509462.1:n.4552-20_4552-14dup
ENST00000693499.1:n.5480-20_5480-14dup
ENST00000693591.1:n.3292-20_3292-14dup
ENST00000380817.8:c.4555-20_4555-14dup MANE Select	ENSP00000370196.2:n.4555-20_4555-14dup
ENST00000348911.10:c.4480-20_4480-14dup	ENSP00000252027.7:n.4480-20_4480-14dup
ENST00000380817.7:c.4555-20_4555-14dup	ENSP00000370196.2:n.4555-20_4555-14dup
ENST00000418590.3:c.155-20_155-14dup
ENST00000470434.1:n.696-20_696-14dup
NM_002972.3:c.4555-20_4555-14dup	NP_002963.2:n.4555-20_4555-14dup
XM_005261931.1:c.4558-20_4558-14dup	XP_005261988.1:n.4558-20_4558-14dup
XM_005261935.1:c.4477-20_4477-14dup	XP_005261992.1:n.4477-20_4477-14dup
XM_011530707.1:c.4657-20_4657-14dup	XP_011529009.1:n.4657-20_4657-14dup
XM_011530708.1:c.4609-20_4609-14dup	XP_011529010.1:n.4609-20_4609-14dup
XM_011530709.1:c.4585-20_4585-14dup	XP_011529011.1:n.4585-20_4585-14dup
XM_011530710.1:c.4582-20_4582-14dup	XP_011529012.1:n.4582-20_4582-14dup
XM_011530711.1:c.4582-20_4582-14dup	XP_011529013.1:n.4582-20_4582-14dup
XR_938344.1:n.4675-20_4675-14dup
NM_001365819.1:c.4480-20_4480-14dup	NP_001352748.1:n.4480-20_4480-14dup
XM_005261935.2:c.4477-20_4477-14dup	XP_005261992.1:n.4477-20_4477-14dup
XM_011530709.2:c.4585-20_4585-14dup	XP_011529011.1:n.4585-20_4585-14dup
XM_011530710.2:c.4582-20_4582-14dup	XP_011529012.1:n.4582-20_4582-14dup
XM_017028905.2:c.4507-20_4507-14dup	XP_016884394.1:n.4507-20_4507-14dup
NM_002972.4:c.4555-20_4555-14dup MANE Select	NP_002963.2:n.4555-20_4555-14dup