Canonical Allele Identifier: CA2580096248

Gene: SMARCA4

Linked Data

• ClinVar Variation Id: 2452850
• ClinVar RCV Id: RCV003177624

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11041360_11041362delinsGAA , CM000681.2:g.11041360_11041362delinsGAA	GRCh38
NC_000019.9:g.11152036_11152038delinsGAA , CM000681.1:g.11152036_11152038delinsGAA	GRCh37
NC_000019.8:g.11013036_11013038delinsGAA	NCBI36
NG_011556.2:g.85439_85441delinsGAA
NG_011556.3:g.85429_85431delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711079.1:c.4320_4322delinsGAA	ENSP00000518564.1:p.Ser1441Lys
ENST00000704344.1:c.4224_4226delinsGAA	ENSP00000515855.1:p.Ser1409Lys
ENST00000646693.2:c.4320_4322delinsGAA MANE Plus Clinical	ENSP00000495368.1:p.Ser1441Lys
ENST00000344626.10:c.4224_4226delinsGAA MANE Select	ENSP00000343896.4:p.Ser1409Lys
ENST00000429416.8:c.4224_4226delinsGAA	ENSP00000395654.1:p.Ser1409Lys
ENST00000444061.8:c.4125_4127delinsGAA	ENSP00000392837.2:p.Ser1376Lys
ENST00000538456.4:c.391_393delinsGAA
ENST00000586985.2:c.351_353delinsGAA	ENSP00000467796.2:p.Ser118Lys
ENST00000590574.6:c.4125_4127delinsGAA	ENSP00000466963.1:p.Ser1376Lys
ENST00000592158.2:c.165_167delinsGAA	ENSP00000467200.2:p.Ser56Lys
ENST00000592604.6:n.2465_2467delinsGAA
ENST00000642350.1:c.2718_2720delinsGAA	ENSP00000495355.1:p.Ser907Lys
ENST00000642508.1:c.1681_1683delinsGAA
ENST00000642628.1:c.4221_4223delinsGAA	ENSP00000496498.1:p.Ser1408Lys
ENST00000642726.1:c.4221_4223delinsGAA	ENSP00000494353.1:p.Ser1408Lys
ENST00000643208.1:c.2781_2783delinsGAA	ENSP00000496074.1:p.Ser928Lys
ENST00000643296.1:c.4134_4136delinsGAA	ENSP00000496635.1:p.Ser1379Lys
ENST00000643534.1:c.2509_2511delinsGAA
ENST00000643549.1:c.4230_4232delinsGAA	ENSP00000493975.1:p.Ser1411Lys
ENST00000643857.1:c.2588_2590delinsGAA
ENST00000643929.1:n.717_719delinsGAA
ENST00000643995.1:c.3647_3649delinsGAA
ENST00000644065.1:c.2861_2863delinsGAA
ENST00000644327.1:c.2896_2898delinsGAA
ENST00000644737.1:c.4134_4136delinsGAA	ENSP00000495548.1:p.Ser1379Lys
ENST00000644963.1:c.2878_2880delinsGAA
ENST00000645061.1:c.2712_2714delinsGAA	ENSP00000493690.1:p.Ser905Lys
ENST00000645236.1:c.773_775delinsGAA
ENST00000645460.1:c.4125_4127delinsGAA	ENSP00000494463.1:p.Ser1376Lys
ENST00000645648.1:c.2135_2137delinsGAA	ENSP00000493521.1:n.2135_2137delinsGAA
ENST00000646183.1:c.2567_2569delinsGAA
ENST00000646484.1:c.4125_4127delinsGAA	ENSP00000495536.1:p.Ser1376Lys
ENST00000646510.1:c.4125_4127delinsGAA	ENSP00000494772.1:p.Ser1376Lys
ENST00000646593.1:c.2072_2074delinsGAA	ENSP00000494341.1:n.2072_2074delinsGAA
ENST00000646693.1:c.4320_4322delinsGAA	ENSP00000495368.1:p.Ser1441Lys
ENST00000646746.1:c.2524_2526delinsGAA
ENST00000646889.1:n.727_729delinsGAA
ENST00000647230.1:c.4125_4127delinsGAA	ENSP00000494676.1:p.Ser1376Lys
ENST00000647268.1:c.2478_2480delinsGAA	ENSP00000496176.1:p.Ser827Lys
ENST00000344626.8:c.4224_4226delinsGAA	ENSP00000343896.4:p.Ser1409Lys
ENST00000413806.7:c.4326_4328delinsGAA	ENSP00000414727.3:p.Ser1443Lys
ENST00000429416.7:c.4224_4226delinsGAA	ENSP00000395654.1:p.Ser1409Lys
ENST00000444061.7:c.4125_4127delinsGAA	ENSP00000392837.2:p.Ser1376Lys
ENST00000450717.7:c.4320_4322delinsGAA	ENSP00000397783.3:p.Ser1441Lys
ENST00000538456.3:n.538_540delinsGAA
ENST00000541122.6:c.4134_4136delinsGAA	ENSP00000445036.2:p.Ser1379Lys
ENST00000585799.5:n.2662_2664delinsGAA
ENST00000589677.5:c.4134_4136delinsGAA	ENSP00000464778.1:p.Ser1379Lys
ENST00000590574.5:c.4125_4127delinsGAA	ENSP00000466963.1:p.Ser1376Lys
ENST00000591595.5:n.2197_2199delinsGAA
ENST00000592158.1:c.303_305delinsGAA	ENSP00000467200.1:p.Ser102Lys
ENST00000592604.5:n.2047_2049delinsGAA
NM_001128844.1:c.4224_4226delinsGAA	NP_001122316.1:p.Ser1409Lys
NM_001128845.1:c.4134_4136delinsGAA	NP_001122317.1:p.Ser1379Lys
NM_001128846.1:c.4134_4136delinsGAA	NP_001122318.1:p.Ser1379Lys
NM_001128847.1:c.4125_4127delinsGAA	NP_001122319.1:p.Ser1376Lys
NM_001128848.1:c.4125_4127delinsGAA	NP_001122320.1:p.Ser1376Lys
NM_001128849.1:c.4320_4322delinsGAA	NP_001122321.1:p.Ser1441Lys
NM_003072.3:c.4224_4226delinsGAA	NP_003063.2:p.Ser1409Lys
XM_005260028.2:c.4233_4235delinsGAA	XP_005260085.1:p.Ser1412Lys
XM_005260030.2:c.4221_4223delinsGAA	XP_005260087.1:p.Ser1408Lys
XM_005260031.2:c.4224_4226delinsGAA	XP_005260088.1:p.Ser1409Lys
XM_005260032.2:c.4134_4136delinsGAA	XP_005260089.1:p.Ser1379Lys
XM_005260033.2:c.4134_4136delinsGAA	XP_005260090.1:p.Ser1379Lys
XM_005260034.2:c.4125_4127delinsGAA	XP_005260091.1:p.Ser1376Lys
XM_005260035.2:c.4125_4127delinsGAA	XP_005260092.1:p.Ser1376Lys
XM_006722845.2:c.4320_4322delinsGAA	XP_006722908.1:p.Ser1441Lys
XM_006722846.2:c.4320_4322delinsGAA	XP_006722909.1:p.Ser1441Lys
XM_006722847.2:c.4320_4322delinsGAA	XP_006722910.1:p.Ser1441Lys
XM_011528198.1:c.4320_4322delinsGAA	XP_011526500.1:p.Ser1441Lys
XM_024451658.1:c.4320_4322delinsGAA	XP_024307426.1:p.Ser1441Lys
XM_024451659.1:c.4320_4322delinsGAA	XP_024307427.1:p.Ser1441Lys
XM_024451660.1:c.4233_4235delinsGAA	XP_024307428.1:p.Ser1412Lys
XM_024451661.1:c.4221_4223delinsGAA	XP_024307429.1:p.Ser1408Lys
XM_024451662.1:c.4224_4226delinsGAA	XP_024307430.1:p.Ser1409Lys
XM_024451663.1:c.4221_4223delinsGAA	XP_024307431.1:p.Ser1408Lys
XM_024451664.1:c.4134_4136delinsGAA	XP_024307432.1:p.Ser1379Lys
XM_024451665.1:c.4134_4136delinsGAA	XP_024307433.1:p.Ser1379Lys
XM_024451666.1:c.4125_4127delinsGAA	XP_024307434.1:p.Ser1376Lys
XM_024451667.1:c.4125_4127delinsGAA	XP_024307435.1:p.Ser1376Lys
NM_001128844.3:c.4224_4226delinsGAA	NP_001122316.1:p.Ser1409Lys
NM_001128845.2:c.4134_4136delinsGAA	NP_001122317.1:p.Ser1379Lys
NM_001128846.2:c.4134_4136delinsGAA	NP_001122318.1:p.Ser1379Lys
NM_001128847.4:c.4125_4127delinsGAA	NP_001122319.1:p.Ser1376Lys
NM_001128848.2:c.4125_4127delinsGAA	NP_001122320.1:p.Ser1376Lys
NM_001128849.3:c.4320_4322delinsGAA	NP_001122321.1:p.Ser1441Lys
NM_001374457.1:c.4125_4127delinsGAA	NP_001361386.1:p.Ser1376Lys
NM_003072.5:c.4224_4226delinsGAA MANE Select	NP_003063.2:p.Ser1409Lys
NR_164683.1:n.4614_4616delinsGAA
NM_001387283.1:c.4320_4322delinsGAA MANE Plus Clinical	NP_001374212.1:p.Ser1441Lys