Canonical Allele Identifier: CA2580613046

Gene: SMARCA4

Linked Data

• ClinVar Variation Id: 2098968
• ClinVar RCV Id: RCV003021483

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11041331_11041333del , CM000681.2:g.11041331_11041333del	GRCh38
NC_000019.9:g.11152007_11152009del , CM000681.1:g.11152007_11152009del	GRCh37
NC_000019.8:g.11013007_11013009del	NCBI36
NG_011556.2:g.85410_85412del
NG_011556.3:g.85400_85402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711079.1:c.4291_4293del	ENSP00000518564.1:p.Glu1431del
ENST00000704344.1:c.4195_4197del	ENSP00000515855.1:p.Glu1399del
ENST00000646693.2:c.4291_4293del MANE Plus Clinical	ENSP00000495368.1:p.Glu1431del
ENST00000344626.10:c.4195_4197del MANE Select	ENSP00000343896.4:p.Glu1399del
ENST00000429416.8:c.4195_4197del	ENSP00000395654.1:p.Glu1399del
ENST00000444061.8:c.4096_4098del	ENSP00000392837.2:p.Glu1366del
ENST00000538456.4:c.362_364del
ENST00000586985.2:c.322_324del	ENSP00000467796.2:p.Glu108del
ENST00000590574.6:c.4096_4098del	ENSP00000466963.1:p.Glu1366del
ENST00000592158.2:c.136_138del	ENSP00000467200.2:p.Glu46del
ENST00000592604.6:n.2436_2438del
ENST00000642350.1:c.2689_2691del	ENSP00000495355.1:p.Glu897del
ENST00000642508.1:c.1652_1654del
ENST00000642628.1:c.4192_4194del	ENSP00000496498.1:p.Glu1398del
ENST00000642726.1:c.4192_4194del	ENSP00000494353.1:p.Glu1398del
ENST00000643208.1:c.2752_2754del	ENSP00000496074.1:p.Glu918del
ENST00000643296.1:c.4105_4107del	ENSP00000496635.1:p.Glu1369del
ENST00000643534.1:c.2480_2482del
ENST00000643549.1:c.4201_4203del	ENSP00000493975.1:p.Glu1401del
ENST00000643857.1:c.2559_2561del
ENST00000643929.1:n.688_690del
ENST00000643995.1:c.3618_3620del
ENST00000644065.1:c.2832_2834del
ENST00000644327.1:c.2867_2869del
ENST00000644737.1:c.4105_4107del	ENSP00000495548.1:p.Glu1369del
ENST00000644963.1:c.2849_2851del
ENST00000645061.1:c.2683_2685del	ENSP00000493690.1:p.Glu895del
ENST00000645236.1:c.744_746del
ENST00000645460.1:c.4096_4098del	ENSP00000494463.1:p.Glu1366del
ENST00000645648.1:c.2106_2108del	ENSP00000493521.1:n.2106_2108del
ENST00000646183.1:c.2538_2540del
ENST00000646484.1:c.4096_4098del	ENSP00000495536.1:p.Glu1366del
ENST00000646510.1:c.4096_4098del	ENSP00000494772.1:p.Glu1366del
ENST00000646593.1:c.2043_2045del	ENSP00000494341.1:n.2043_2045del
ENST00000646693.1:c.4291_4293del	ENSP00000495368.1:p.Glu1431del
ENST00000646746.1:c.2495_2497del
ENST00000646889.1:n.698_700del
ENST00000647230.1:c.4096_4098del	ENSP00000494676.1:p.Glu1366del
ENST00000647268.1:c.2449_2451del	ENSP00000496176.1:p.Glu817del
ENST00000344626.8:c.4195_4197del	ENSP00000343896.4:p.Glu1399del
ENST00000413806.7:c.4297_4299del	ENSP00000414727.3:p.Glu1433del
ENST00000429416.7:c.4195_4197del	ENSP00000395654.1:p.Glu1399del
ENST00000444061.7:c.4096_4098del	ENSP00000392837.2:p.Glu1366del
ENST00000450717.7:c.4291_4293del	ENSP00000397783.3:p.Glu1431del
ENST00000538456.3:n.509_511del
ENST00000541122.6:c.4105_4107del	ENSP00000445036.2:p.Glu1369del
ENST00000585799.5:n.2633_2635del
ENST00000589677.5:c.4105_4107del	ENSP00000464778.1:p.Glu1369del
ENST00000590574.5:c.4096_4098del	ENSP00000466963.1:p.Glu1366del
ENST00000591595.5:n.2168_2170del
ENST00000592158.1:c.274_276del	ENSP00000467200.1:p.Glu92del
ENST00000592604.5:n.2018_2020del
NM_001128844.1:c.4195_4197del	NP_001122316.1:p.Glu1399del
NM_001128845.1:c.4105_4107del	NP_001122317.1:p.Glu1369del
NM_001128846.1:c.4105_4107del	NP_001122318.1:p.Glu1369del
NM_001128847.1:c.4096_4098del	NP_001122319.1:p.Glu1366del
NM_001128848.1:c.4096_4098del	NP_001122320.1:p.Glu1366del
NM_001128849.1:c.4291_4293del	NP_001122321.1:p.Glu1431del
NM_003072.3:c.4195_4197del	NP_003063.2:p.Glu1399del
XM_005260028.2:c.4204_4206del	XP_005260085.1:p.Glu1402del
XM_005260030.2:c.4192_4194del	XP_005260087.1:p.Glu1398del
XM_005260031.2:c.4195_4197del	XP_005260088.1:p.Glu1399del
XM_005260032.2:c.4105_4107del	XP_005260089.1:p.Glu1369del
XM_005260033.2:c.4105_4107del	XP_005260090.1:p.Glu1369del
XM_005260034.2:c.4096_4098del	XP_005260091.1:p.Glu1366del
XM_005260035.2:c.4096_4098del	XP_005260092.1:p.Glu1366del
XM_006722845.2:c.4291_4293del	XP_006722908.1:p.Glu1431del
XM_006722846.2:c.4291_4293del	XP_006722909.1:p.Glu1431del
XM_006722847.2:c.4291_4293del	XP_006722910.1:p.Glu1431del
XM_011528198.1:c.4291_4293del	XP_011526500.1:p.Glu1431del
XM_024451658.1:c.4291_4293del	XP_024307426.1:p.Glu1431del
XM_024451659.1:c.4291_4293del	XP_024307427.1:p.Glu1431del
XM_024451660.1:c.4204_4206del	XP_024307428.1:p.Glu1402del
XM_024451661.1:c.4192_4194del	XP_024307429.1:p.Glu1398del
XM_024451662.1:c.4195_4197del	XP_024307430.1:p.Glu1399del
XM_024451663.1:c.4192_4194del	XP_024307431.1:p.Glu1398del
XM_024451664.1:c.4105_4107del	XP_024307432.1:p.Glu1369del
XM_024451665.1:c.4105_4107del	XP_024307433.1:p.Glu1369del
XM_024451666.1:c.4096_4098del	XP_024307434.1:p.Glu1366del
XM_024451667.1:c.4096_4098del	XP_024307435.1:p.Glu1366del
NM_001128844.3:c.4195_4197del	NP_001122316.1:p.Glu1399del
NM_001128845.2:c.4105_4107del	NP_001122317.1:p.Glu1369del
NM_001128846.2:c.4105_4107del	NP_001122318.1:p.Glu1369del
NM_001128847.4:c.4096_4098del	NP_001122319.1:p.Glu1366del
NM_001128848.2:c.4096_4098del	NP_001122320.1:p.Glu1366del
NM_001128849.3:c.4291_4293del	NP_001122321.1:p.Glu1431del
NM_001374457.1:c.4096_4098del	NP_001361386.1:p.Glu1366del
NM_003072.5:c.4195_4197del MANE Select	NP_003063.2:p.Glu1399del
NR_164683.1:n.4585_4587del
NM_001387283.1:c.4291_4293del MANE Plus Clinical	NP_001374212.1:p.Glu1431del