Canonical Allele Identifier: CA16615861
Gene: SMARCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 408653
ClinVar RCV Id: RCV000471726
dbSNP Id: rs1060502085

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10986495del , CM000681.2:g.10986495del GRCh38
NC_000019.9:g.11097171del , CM000681.1:g.11097171del GRCh37
NC_000019.8:g.10958171del NCBI36
NG_011556.2:g.30574del
NG_011556.3:g.30564del

Transcript Alleles

HGVS Amino-acid change
ENST00000711079.1:c.662del ENSP00000518564.1:p.Pro221LeufsTer?
ENST00000704344.1:c.662del ENSP00000515855.1:p.Pro221LeufsTer?
ENST00000704345.1:c.662del ENSP00000515856.1:p.Pro221LeufsTer?
ENST00000646693.2:c.662del MANE Plus Clinical ENSP00000495368.1:p.Pro221LeufsTer?
ENST00000344626.10:c.662del MANE Select ENSP00000343896.4:p.Pro221LeufsTer?
ENST00000429416.8:c.662del ENSP00000395654.1:p.Pro221LeufsTer?
ENST00000444061.8:c.662del ENSP00000392837.2:p.Pro221LeufsTer?
ENST00000590574.6:c.662del ENSP00000466963.1:p.Pro221LeufsTer?
ENST00000591545.6:c.535del
ENST00000642628.1:c.662del ENSP00000496498.1:p.Pro221LeufsTer?
ENST00000642726.1:c.662del ENSP00000494353.1:p.Pro221LeufsTer?
ENST00000643296.1:c.662del ENSP00000496635.1:p.Pro221LeufsTer?
ENST00000643549.1:c.662del ENSP00000493975.1:p.Pro221LeufsTer?
ENST00000643995.1:c.76del
ENST00000644737.1:c.662del ENSP00000495548.1:p.Pro221LeufsTer?
ENST00000645460.1:c.662del ENSP00000494463.1:p.Pro221LeufsTer?
ENST00000646484.1:c.662del ENSP00000495536.1:p.Pro221LeufsTer?
ENST00000646510.1:c.662del ENSP00000494772.1:p.Pro221LeufsTer?
ENST00000646693.1:c.662del ENSP00000495368.1:p.Pro221LeufsTer?
ENST00000647230.1:c.662del ENSP00000494676.1:p.Pro221LeufsTer?
ENST00000344626.8:c.662del ENSP00000343896.4:p.Pro221LeufsTer?
ENST00000413806.7:c.662del ENSP00000414727.3:p.Pro221LeufsTer?
ENST00000429416.7:c.662del ENSP00000395654.1:p.Pro221LeufsTer?
ENST00000444061.7:c.662del ENSP00000392837.2:p.Pro221LeufsTer?
ENST00000450717.7:c.662del ENSP00000397783.3:p.Pro221LeufsTer?
ENST00000541122.6:c.662del ENSP00000445036.2:p.Pro221LeufsTer?
ENST00000589677.5:c.662del ENSP00000464778.1:p.Pro221LeufsTer?
ENST00000590574.5:c.662del ENSP00000466963.1:p.Pro221LeufsTer?
ENST00000591545.5:n.536del
NM_001128844.1:c.662del NP_001122316.1:p.Pro221LeufsTer?
NM_001128845.1:c.662del NP_001122317.1:p.Pro221LeufsTer?
NM_001128846.1:c.662del NP_001122318.1:p.Pro221LeufsTer?
NM_001128847.1:c.662del NP_001122319.1:p.Pro221LeufsTer?
NM_001128848.1:c.662del NP_001122320.1:p.Pro221LeufsTer?
NM_001128849.1:c.662del NP_001122321.1:p.Pro221LeufsTer?
NM_003072.3:c.662del NP_003063.2:p.Pro221LeufsTer?
XM_005260028.2:c.662del XP_005260085.1:p.Pro221LeufsTer?
XM_005260030.2:c.662del XP_005260087.1:p.Pro221LeufsTer?
XM_005260031.2:c.662del XP_005260088.1:p.Pro221LeufsTer?
XM_005260032.2:c.662del XP_005260089.1:p.Pro221LeufsTer?
XM_005260033.2:c.662del XP_005260090.1:p.Pro221LeufsTer?
XM_005260034.2:c.662del XP_005260091.1:p.Pro221LeufsTer?
XM_005260035.2:c.662del XP_005260092.1:p.Pro221LeufsTer?
XM_006722845.2:c.662del XP_006722908.1:p.Pro221LeufsTer?
XM_006722846.2:c.662del XP_006722909.1:p.Pro221LeufsTer?
XM_006722847.2:c.662del XP_006722910.1:p.Pro221LeufsTer?
XM_011528198.1:c.662del XP_011526500.1:p.Pro221LeufsTer?
XM_024451658.1:c.662del XP_024307426.1:p.Pro221LeufsTer?
XM_024451659.1:c.662del XP_024307427.1:p.Pro221LeufsTer?
XM_024451660.1:c.662del XP_024307428.1:p.Pro221LeufsTer?
XM_024451661.1:c.662del XP_024307429.1:p.Pro221LeufsTer?
XM_024451662.1:c.662del XP_024307430.1:p.Pro221LeufsTer?
XM_024451663.1:c.662del XP_024307431.1:p.Pro221LeufsTer?
XM_024451664.1:c.662del XP_024307432.1:p.Pro221LeufsTer?
XM_024451665.1:c.662del XP_024307433.1:p.Pro221LeufsTer?
XM_024451666.1:c.662del XP_024307434.1:p.Pro221LeufsTer?
XM_024451667.1:c.662del XP_024307435.1:p.Pro221LeufsTer?
NM_001128844.3:c.662del NP_001122316.1:p.Pro221LeufsTer?
NM_001128845.2:c.662del NP_001122317.1:p.Pro221LeufsTer?
NM_001128846.2:c.662del NP_001122318.1:p.Pro221LeufsTer?
NM_001128847.4:c.662del NP_001122319.1:p.Pro221LeufsTer?
NM_001128848.2:c.662del NP_001122320.1:p.Pro221LeufsTer?
NM_001128849.3:c.662del NP_001122321.1:p.Pro221LeufsTer?
NM_001374457.1:c.662del NP_001361386.1:p.Pro221LeufsTer?
NM_003072.5:c.662del MANE Select NP_003063.2:p.Pro221LeufsTer?
NR_164683.1:n.838del
NM_001387283.1:c.662del MANE Plus Clinical NP_001374212.1:p.Pro221LeufsTer?