Canonical Allele Identifier: CA2582467039

Gene: SMARCA4

Linked Data

• gnomAD v4: 19-11041334-ATCGAAGAGGAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11041337_11041348del , CM000681.2:g.11041337_11041348del	GRCh38
NC_000019.9:g.11152013_11152024del , CM000681.1:g.11152013_11152024del	GRCh37
NC_000019.8:g.11013013_11013024del	NCBI36
NG_011556.2:g.85416_85427del
NG_011556.3:g.85406_85417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711079.1:c.4297_4308del	ENSP00000518564.1:p.Glu1433_Val1436del
ENST00000704344.1:c.4201_4212del	ENSP00000515855.1:p.Glu1401_Val1404del
ENST00000646693.2:c.4297_4308del MANE Plus Clinical	ENSP00000495368.1:p.Glu1433_Val1436del
ENST00000344626.10:c.4201_4212del MANE Select	ENSP00000343896.4:p.Glu1401_Val1404del
ENST00000429416.8:c.4201_4212del	ENSP00000395654.1:p.Glu1401_Val1404del
ENST00000444061.8:c.4102_4113del	ENSP00000392837.2:p.Glu1368_Val1371del
ENST00000538456.4:c.368_379del
ENST00000586985.2:c.328_339del	ENSP00000467796.2:p.Glu110_Val113del
ENST00000590574.6:c.4102_4113del	ENSP00000466963.1:p.Glu1368_Val1371del
ENST00000592158.2:c.142_153del	ENSP00000467200.2:p.Glu48_Val51del
ENST00000592604.6:n.2442_2453del
ENST00000642350.1:c.2695_2706del	ENSP00000495355.1:p.Glu899_Val902del
ENST00000642508.1:c.1658_1669del
ENST00000642628.1:c.4198_4209del	ENSP00000496498.1:p.Glu1400_Val1403del
ENST00000642726.1:c.4198_4209del	ENSP00000494353.1:p.Glu1400_Val1403del
ENST00000643208.1:c.2758_2769del	ENSP00000496074.1:p.Glu920_Val923del
ENST00000643296.1:c.4111_4122del	ENSP00000496635.1:p.Glu1371_Val1374del
ENST00000643534.1:c.2486_2497del
ENST00000643549.1:c.4207_4218del	ENSP00000493975.1:p.Glu1403_Val1406del
ENST00000643857.1:c.2565_2576del
ENST00000643929.1:n.694_705del
ENST00000643995.1:c.3624_3635del
ENST00000644065.1:c.2838_2849del
ENST00000644327.1:c.2873_2884del
ENST00000644737.1:c.4111_4122del	ENSP00000495548.1:p.Glu1371_Val1374del
ENST00000644963.1:c.2855_2866del
ENST00000645061.1:c.2689_2700del	ENSP00000493690.1:p.Glu897_Val900del
ENST00000645236.1:c.750_761del
ENST00000645460.1:c.4102_4113del	ENSP00000494463.1:p.Glu1368_Val1371del
ENST00000645648.1:c.2112_2123del	ENSP00000493521.1:n.2112_2123del
ENST00000646183.1:c.2544_2555del
ENST00000646484.1:c.4102_4113del	ENSP00000495536.1:p.Glu1368_Val1371del
ENST00000646510.1:c.4102_4113del	ENSP00000494772.1:p.Glu1368_Val1371del
ENST00000646593.1:c.2049_2060del	ENSP00000494341.1:n.2049_2060del
ENST00000646693.1:c.4297_4308del	ENSP00000495368.1:p.Glu1433_Val1436del
ENST00000646746.1:c.2501_2512del
ENST00000646889.1:n.704_715del
ENST00000647230.1:c.4102_4113del	ENSP00000494676.1:p.Glu1368_Val1371del
ENST00000647268.1:c.2455_2466del	ENSP00000496176.1:p.Glu819_Val822del
ENST00000344626.8:c.4201_4212del	ENSP00000343896.4:p.Glu1401_Val1404del
ENST00000413806.7:c.4303_4314del	ENSP00000414727.3:p.Glu1435_Val1438del
ENST00000429416.7:c.4201_4212del	ENSP00000395654.1:p.Glu1401_Val1404del
ENST00000444061.7:c.4102_4113del	ENSP00000392837.2:p.Glu1368_Val1371del
ENST00000450717.7:c.4297_4308del	ENSP00000397783.3:p.Glu1433_Val1436del
ENST00000538456.3:n.515_526del
ENST00000541122.6:c.4111_4122del	ENSP00000445036.2:p.Glu1371_Val1374del
ENST00000585799.5:n.2639_2650del
ENST00000589677.5:c.4111_4122del	ENSP00000464778.1:p.Glu1371_Val1374del
ENST00000590574.5:c.4102_4113del	ENSP00000466963.1:p.Glu1368_Val1371del
ENST00000591595.5:n.2174_2185del
ENST00000592158.1:c.280_291del	ENSP00000467200.1:p.Glu94_Val97del
ENST00000592604.5:n.2024_2035del
NM_001128844.1:c.4201_4212del	NP_001122316.1:p.Glu1401_Val1404del
NM_001128845.1:c.4111_4122del	NP_001122317.1:p.Glu1371_Val1374del
NM_001128846.1:c.4111_4122del	NP_001122318.1:p.Glu1371_Val1374del
NM_001128847.1:c.4102_4113del	NP_001122319.1:p.Glu1368_Val1371del
NM_001128848.1:c.4102_4113del	NP_001122320.1:p.Glu1368_Val1371del
NM_001128849.1:c.4297_4308del	NP_001122321.1:p.Glu1433_Val1436del
NM_003072.3:c.4201_4212del	NP_003063.2:p.Glu1401_Val1404del
XM_005260028.2:c.4210_4221del	XP_005260085.1:p.Glu1404_Val1407del
XM_005260030.2:c.4198_4209del	XP_005260087.1:p.Glu1400_Val1403del
XM_005260031.2:c.4201_4212del	XP_005260088.1:p.Glu1401_Val1404del
XM_005260032.2:c.4111_4122del	XP_005260089.1:p.Glu1371_Val1374del
XM_005260033.2:c.4111_4122del	XP_005260090.1:p.Glu1371_Val1374del
XM_005260034.2:c.4102_4113del	XP_005260091.1:p.Glu1368_Val1371del
XM_005260035.2:c.4102_4113del	XP_005260092.1:p.Glu1368_Val1371del
XM_006722845.2:c.4297_4308del	XP_006722908.1:p.Glu1433_Val1436del
XM_006722846.2:c.4297_4308del	XP_006722909.1:p.Glu1433_Val1436del
XM_006722847.2:c.4297_4308del	XP_006722910.1:p.Glu1433_Val1436del
XM_011528198.1:c.4297_4308del	XP_011526500.1:p.Glu1433_Val1436del
XM_024451658.1:c.4297_4308del	XP_024307426.1:p.Glu1433_Val1436del
XM_024451659.1:c.4297_4308del	XP_024307427.1:p.Glu1433_Val1436del
XM_024451660.1:c.4210_4221del	XP_024307428.1:p.Glu1404_Val1407del
XM_024451661.1:c.4198_4209del	XP_024307429.1:p.Glu1400_Val1403del
XM_024451662.1:c.4201_4212del	XP_024307430.1:p.Glu1401_Val1404del
XM_024451663.1:c.4198_4209del	XP_024307431.1:p.Glu1400_Val1403del
XM_024451664.1:c.4111_4122del	XP_024307432.1:p.Glu1371_Val1374del
XM_024451665.1:c.4111_4122del	XP_024307433.1:p.Glu1371_Val1374del
XM_024451666.1:c.4102_4113del	XP_024307434.1:p.Glu1368_Val1371del
XM_024451667.1:c.4102_4113del	XP_024307435.1:p.Glu1368_Val1371del
NM_001128844.3:c.4201_4212del	NP_001122316.1:p.Glu1401_Val1404del
NM_001128845.2:c.4111_4122del	NP_001122317.1:p.Glu1371_Val1374del
NM_001128846.2:c.4111_4122del	NP_001122318.1:p.Glu1371_Val1374del
NM_001128847.4:c.4102_4113del	NP_001122319.1:p.Glu1368_Val1371del
NM_001128848.2:c.4102_4113del	NP_001122320.1:p.Glu1368_Val1371del
NM_001128849.3:c.4297_4308del	NP_001122321.1:p.Glu1433_Val1436del
NM_001374457.1:c.4102_4113del	NP_001361386.1:p.Glu1368_Val1371del
NM_003072.5:c.4201_4212del MANE Select	NP_003063.2:p.Glu1401_Val1404del
NR_164683.1:n.4591_4602del
NM_001387283.1:c.4297_4308del MANE Plus Clinical	NP_001374212.1:p.Glu1433_Val1436del