Canonical Allele Identifier: CA325528043

Gene: SBF1

Linked Data

• dbSNP Id: rs373325164
• MyVariant Identifiers: chr22:g.50893411_50893412insGT (hg19) ; chr22:g.50454982_50454983insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454982_50454983insGT , CM000684.2:g.50454982_50454983insGT	GRCh38
NC_000022.10:g.50893411_50893412insGT , CM000684.1:g.50893411_50893412insGT	GRCh37
NC_000022.9:g.49240277_49240278insGT	NCBI36
NG_041810.1:g.25089_25090insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4603+33_4603+34insAC	ENSP00000252027.8:n.4603+33_4603+34insAC
ENST00000418590.4:c.313+33_313+34insAC	ENSP00000401538.2:n.313+33_313+34insAC
ENST00000470434.2:n.1084+33_1084+34insAC
ENST00000684986.1:c.4684+33_4684+34insAC	ENSP00000509117.1:n.4684+33_4684+34insAC
ENST00000685180.1:n.2488+5551_2488+5552insAC
ENST00000685390.1:n.2649+33_2649+34insAC
ENST00000685411.1:n.431+33_431+34insAC
ENST00000685592.1:c.915+33_915+34insAC
ENST00000685809.1:c.4594+33_4594+34insAC	ENSP00000508863.1:n.4594+33_4594+34insAC
ENST00000686029.1:c.759+33_759+34insAC
ENST00000686191.1:n.3881+33_3881+34insAC
ENST00000686222.1:c.*4103+33_*4103+34insAC	ENSP00000508737.1:n.*4103+33_*4103+34insAC
ENST00000686321.1:c.777+33_777+34insAC
ENST00000686427.1:c.*1616+33_*1616+34insAC	ENSP00000510379.1:n.*1616+33_*1616+34insAC
ENST00000686758.1:n.2457_2458insAC
ENST00000686801.1:c.4669+33_4669+34insAC	ENSP00000509915.1:n.4669+33_4669+34insAC
ENST00000686826.1:n.1000+33_1000+34insAC
ENST00000687016.1:c.4582+33_4582+34insAC	ENSP00000509074.1:n.4582+33_4582+34insAC
ENST00000687704.1:c.*2406+33_*2406+34insAC	ENSP00000510454.1:n.*2406+33_*2406+34insAC
ENST00000688066.1:c.4681+33_4681+34insAC	ENSP00000510782.1:n.4681+33_4681+34insAC
ENST00000688124.1:c.*3599+33_*3599+34insAC	ENSP00000510645.1:n.*3599+33_*3599+34insAC
ENST00000688848.1:c.*4025+33_*4025+34insAC	ENSP00000509419.1:n.*4025+33_*4025+34insAC
ENST00000688985.1:c.1682+33_1682+34insAC	ENSP00000510477.1:n.1682+33_1682+34insAC
ENST00000689129.1:c.4606+33_4606+34insAC	ENSP00000510414.1:n.4606+33_4606+34insAC
ENST00000689177.1:n.5953+33_5953+34insAC
ENST00000689849.1:c.777+33_777+34insAC
ENST00000689981.1:c.4681+33_4681+34insAC	ENSP00000509035.1:n.4681+33_4681+34insAC
ENST00000690369.1:n.4699+33_4699+34insAC
ENST00000690590.1:n.1728+33_1728+34insAC
ENST00000690990.1:c.4675+33_4675+34insAC	ENSP00000510461.1:n.4675+33_4675+34insAC
ENST00000691233.1:c.4600+33_4600+34insAC	ENSP00000509215.1:n.4600+33_4600+34insAC
ENST00000691306.1:c.779+33_779+34insAC
ENST00000691345.1:n.2302+1233_2302+1234insAC
ENST00000691792.1:c.4669+33_4669+34insAC	ENSP00000509911.1:n.4669+33_4669+34insAC
ENST00000691959.1:n.5400+33_5400+34insAC
ENST00000692844.1:n.1765+33_1765+34insAC
ENST00000692946.1:c.777+33_777+34insAC
ENST00000693052.1:c.4699+33_4699+34insAC	ENSP00000509558.1:n.4699+33_4699+34insAC
ENST00000693289.1:n.1840+33_1840+34insAC
ENST00000693440.1:c.4678+33_4678+34insAC	ENSP00000509462.1:n.4678+33_4678+34insAC
ENST00000693499.1:n.5639_5640insAC
ENST00000693591.1:n.3451_3452insAC
ENST00000380817.8:c.4681+33_4681+34insAC MANE Select	ENSP00000370196.2:n.4681+33_4681+34insAC
ENST00000348911.10:c.4606+33_4606+34insAC	ENSP00000252027.7:n.4606+33_4606+34insAC
ENST00000380817.7:c.4681+33_4681+34insAC	ENSP00000370196.2:n.4681+33_4681+34insAC
ENST00000418590.3:c.281+33_281+34insAC
ENST00000470434.1:n.822+33_822+34insAC
NM_002972.3:c.4681+33_4681+34insAC	NP_002963.2:n.4681+33_4681+34insAC
XM_005261931.1:c.4684+33_4684+34insAC	XP_005261988.1:n.4684+33_4684+34insAC
XM_005261935.1:c.4603+33_4603+34insAC	XP_005261992.1:n.4603+33_4603+34insAC
XM_011530707.1:c.4783+33_4783+34insAC	XP_011529009.1:n.4783+33_4783+34insAC
XM_011530708.1:c.4735+33_4735+34insAC	XP_011529010.1:n.4735+33_4735+34insAC
XM_011530709.1:c.4711+33_4711+34insAC	XP_011529011.1:n.4711+33_4711+34insAC
XM_011530710.1:c.4708+33_4708+34insAC	XP_011529012.1:n.4708+33_4708+34insAC
XM_011530711.1:c.4708+33_4708+34insAC	XP_011529013.1:n.4708+33_4708+34insAC
XR_938344.1:n.4801+33_4801+34insAC
NM_001365819.1:c.4606+33_4606+34insAC	NP_001352748.1:n.4606+33_4606+34insAC
XM_005261935.2:c.4603+33_4603+34insAC	XP_005261992.1:n.4603+33_4603+34insAC
XM_011530709.2:c.4711+33_4711+34insAC	XP_011529011.1:n.4711+33_4711+34insAC
XM_011530710.2:c.4708+33_4708+34insAC	XP_011529012.1:n.4708+33_4708+34insAC
XM_017028905.2:c.4633+33_4633+34insAC	XP_016884394.1:n.4633+33_4633+34insAC
NM_002972.4:c.4681+33_4681+34insAC MANE Select	NP_002963.2:n.4681+33_4681+34insAC