Canonical Allele Identifier: CA2573134617
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39024013dup , CM000664.2:g.39024013dup GRCh38
NC_000002.11:g.39251154dup , CM000664.1:g.39251154dup GRCh37
NC_000002.10:g.39104658dup NCBI36
NG_007530.1:g.101451dup , LRG_754:g.101451dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1079dup
ENST00000688043.1:n.1420dup
ENST00000689668.1:n.1206dup
ENST00000690679.1:c.1386dup
ENST00000690876.1:c.1088dup ENSP00000508955.1:p.Ser364GlufsTer2
ENST00000691229.1:c.1088dup ENSP00000510437.1:p.Ser364GlufsTer2
ENST00000692089.1:c.1088dup ENSP00000508626.1:p.Ser364GlufsTer2
ENST00000402219.8:c.1199dup MANE Select ENSP00000384675.2:p.Ser401GlufsTer2
ENST00000395038.6:c.1199dup ENSP00000378479.2:p.Ser401GlufsTer2
ENST00000402219.6:c.1199dup ENSP00000384675.2:p.Ser401GlufsTer2
ENST00000426016.5:c.1199dup ENSP00000387784.1:p.Ser401GlufsTer2
NM_005633.3:c.1199dup , LRG_754t1:c.1199dup NP_005624.2:p.Ser401GlufsTer2
XM_005264515.3:c.1199dup XP_005264572.1:p.Ser401GlufsTer2
XM_011533060.1:c.1292dup XP_011531362.1:p.Ser432GlufsTer2
XM_011533061.1:c.1292dup XP_011531363.1:p.Ser432GlufsTer2
XM_011533062.1:c.1178dup XP_011531364.1:p.Ser394GlufsTer2
XM_011533063.1:c.1175dup XP_011531365.1:p.Ser393GlufsTer2
XM_011533064.1:c.1028dup XP_011531366.1:p.Ser344GlufsTer2
XM_011533065.1:c.1292dup XP_011531367.1:p.Ser432GlufsTer2
XM_011533066.1:c.134dup XP_011531368.1:p.Ser46GlufsTer2
XM_005264515.4:c.1199dup XP_005264572.1:p.Ser401GlufsTer2
XM_011533062.2:c.1178dup XP_011531364.1:p.Ser394GlufsTer2
XM_011533064.2:c.1028dup XP_011531366.1:p.Ser344GlufsTer2
NM_001382394.1:c.1178dup NP_001369323.1:p.Ser394GlufsTer2
NM_001382395.1:c.1199dup NP_001369324.1:p.Ser401GlufsTer2
NM_005633.4:c.1199dup MANE Select NP_005624.2:p.Ser401GlufsTer2