Canonical Allele Identifier: CA2749574491
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022913_39022915del , CM000664.2:g.39022913_39022915del GRCh38
NC_000002.11:g.39250054_39250056del , CM000664.1:g.39250054_39250056del GRCh37
NC_000002.10:g.39103558_39103560del NCBI36
NG_007530.1:g.102551_102553del , LRG_754:g.102551_102553del

Transcript Alleles

HGVS Amino-acid change
ENST00000472480.2:n.1395_1397del
ENST00000685279.1:c.282_284del ENSP00000509424.1:p.Asp95del
ENST00000688043.1:n.1736_1738del
ENST00000689668.1:n.1522_1524del
ENST00000690876.1:c.1404_1406del ENSP00000508955.1:p.Asp469del
ENST00000691229.1:c.1404_1406del ENSP00000510437.1:p.Asp469del
ENST00000692089.1:c.1404_1406del ENSP00000508626.1:p.Asp469del
ENST00000692620.1:c.282_284del ENSP00000509311.1:p.Asp95del
ENST00000402219.8:c.1515_1517del MANE Select ENSP00000384675.2:p.Asp506del
ENST00000395038.6:c.1515_1517del ENSP00000378479.2:p.Asp506del
ENST00000402219.6:c.1515_1517del ENSP00000384675.2:p.Asp506del
ENST00000426016.5:c.1515_1517del ENSP00000387784.1:p.Asp506del
ENST00000472480.1:n.359_361del
NM_005633.3:c.1515_1517del , LRG_754t1:c.1515_1517del NP_005624.2:p.Asp506del
XM_005264515.3:c.1515_1517del XP_005264572.1:p.Asp506del
XM_011533060.1:c.1608_1610del XP_011531362.1:p.Asp537del
XM_011533061.1:c.1608_1610del XP_011531363.1:p.Asp537del
XM_011533062.1:c.1494_1496del XP_011531364.1:p.Asp499del
XM_011533063.1:c.1491_1493del XP_011531365.1:p.Asp498del
XM_011533064.1:c.1344_1346del XP_011531366.1:p.Asp449del
XM_011533065.1:c.1608_1610del XP_011531367.1:p.Asp537del
XM_011533066.1:c.450_452del XP_011531368.1:p.Asp151del
XM_005264515.4:c.1515_1517del XP_005264572.1:p.Asp506del
XM_011533062.2:c.1494_1496del XP_011531364.1:p.Asp499del
XM_011533064.2:c.1344_1346del XP_011531366.1:p.Asp449del
NM_001382394.1:c.1494_1496del NP_001369323.1:p.Asp499del
NM_001382395.1:c.1515_1517del NP_001369324.1:p.Asp506del
NM_005633.4:c.1515_1517del MANE Select NP_005624.2:p.Asp506del