Canonical Allele Identifier: CA122763
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38995222dup , CM000664.2:g.38995222dup GRCh38
NC_000002.11:g.39222363dup , CM000664.1:g.39222363dup GRCh37
NC_000002.10:g.39075867dup NCBI36
NG_007530.1:g.130243dup , LRG_754:g.130243dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000685279.1:c.2015dup ENSP00000509424.1:p.Arg673LysfsTer23
ENST00000690876.1:c.*554dup ENSP00000508955.1:n.*554dup
ENST00000691229.1:c.3017dup ENSP00000510437.1:p.Arg1007LysfsTer23
ENST00000692089.1:c.3137dup ENSP00000508626.1:p.Arg1047LysfsTer23
ENST00000692227.1:c.944dup ENSP00000509138.1:p.Arg316LysfsTer23
ENST00000692620.1:c.*835dup ENSP00000509311.1:n.*835dup
ENST00000402219.8:c.3248dup MANE Select ENSP00000384675.2:p.Arg1084LysfsTer23
ENST00000395038.6:c.3248dup ENSP00000378479.2:p.Arg1084LysfsTer23
ENST00000402219.6:c.3248dup ENSP00000384675.2:p.Arg1084LysfsTer23
ENST00000426016.5:c.3248dup ENSP00000387784.1:p.Arg1084LysfsTer23
NM_005633.3:c.3248dup , LRG_754t1:c.3248dup NP_005624.2:p.Arg1084LysfsTer23
XM_005264515.3:c.3248dup XP_005264572.1:p.Arg1084LysfsTer23
XM_011533060.1:c.3341dup XP_011531362.1:p.Arg1115LysfsTer23
XM_011533061.1:c.3341dup XP_011531363.1:p.Arg1115LysfsTer23
XM_011533062.1:c.3227dup XP_011531364.1:p.Arg1077LysfsTer23
XM_011533063.1:c.3224dup XP_011531365.1:p.Arg1076LysfsTer23
XM_011533064.1:c.3077dup XP_011531366.1:p.Arg1027LysfsTer23
XM_011533065.1:c.3341dup XP_011531367.1:p.Arg1115LysfsTer23
XM_011533066.1:c.2183dup XP_011531368.1:p.Arg729LysfsTer23
XM_005264515.4:c.3248dup XP_005264572.1:p.Arg1084LysfsTer23
XM_011533062.2:c.3227dup XP_011531364.1:p.Arg1077LysfsTer23
XM_011533064.2:c.3077dup XP_011531366.1:p.Arg1027LysfsTer23
NM_001382394.1:c.3227dup NP_001369323.1:p.Arg1077LysfsTer23
NM_001382395.1:c.3248dup NP_001369324.1:p.Arg1084LysfsTer23
NM_005633.4:c.3248dup MANE Select NP_005624.2:p.Arg1084LysfsTer23