Canonical Allele Identifier: CA2499215941

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39013530_39013538delinsTTGCTCTAA , CM000664.2:g.39013530_39013538delinsTTGCTCTAA	GRCh38
NC_000002.11:g.39240671_39240679delinsTTGCTCTAA , CM000664.1:g.39240671_39240679delinsTTGCTCTAA	GRCh37
NC_000002.10:g.39094175_39094183delinsTTGCTCTAA	NCBI36
NG_007530.1:g.111926_111934delinsTTAGAGCAA , LRG_754:g.111926_111934delinsTTAGAGCAA

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2089_2097delinsTTAGAGCAA MANE Select	NP_005624.2:p.Val697_His699delinsLeuGluGln
ENST00000402219.8:c.2089_2097delinsTTAGAGCAA MANE Select	ENSP00000384675.2:p.Val697_His699delinsLeuGluGln
NM_001382394.1:c.2068_2076delinsTTAGAGCAA	NP_001369323.1:p.Val690_His692delinsLeuGluGln
NM_001382395.1:c.2089_2097delinsTTAGAGCAA	NP_001369324.1:p.Val697_His699delinsLeuGluGln
NM_005633.3:c.2089_2097delinsTTAGAGCAA , LRG_754t1:c.2089_2097delinsTTAGAGCAA	NP_005624.2:p.Val697_His699delinsLeuGluGln
ENST00000395038.6:c.2089_2097delinsTTAGAGCAA	ENSP00000378479.2:p.Val697_His699delinsLeuGluGln
ENST00000402219.6:c.2089_2097delinsTTAGAGCAA	ENSP00000384675.2:p.Val697_His699delinsLeuGluGln
ENST00000426016.5:c.2089_2097delinsTTAGAGCAA	ENSP00000387784.1:p.Val697_His699delinsLeuGluGln
ENST00000685279.1:c.856_864delinsTTAGAGCAA	ENSP00000509424.1:p.Val286_His288delinsLeuGluGln
ENST00000688043.1:n.2310_2318delinsTTAGAGCAA
ENST00000689668.1:n.2096_2104delinsTTAGAGCAA
ENST00000690514.1:n.178_186delinsTTAGAGCAA
ENST00000690876.1:c.1978_1986delinsTTAGAGCAA	ENSP00000508955.1:p.Val660_His662delinsLeuGluGln
ENST00000691229.1:c.1978_1986delinsTTAGAGCAA	ENSP00000510437.1:p.Val660_His662delinsLeuGluGln
ENST00000692089.1:c.1978_1986delinsTTAGAGCAA	ENSP00000508626.1:p.Val660_His662delinsLeuGluGln
ENST00000692620.1:c.856_864delinsTTAGAGCAA	ENSP00000509311.1:p.Val286_His288delinsLeuGluGln
XM_005264515.3:c.2089_2097delinsTTAGAGCAA	XP_005264572.1:p.Val697_His699delinsLeuGluGln
XM_005264515.4:c.2089_2097delinsTTAGAGCAA	XP_005264572.1:p.Val697_His699delinsLeuGluGln
XM_011533060.1:c.2182_2190delinsTTAGAGCAA	XP_011531362.1:p.Val728_His730delinsLeuGluGln
XM_011533061.1:c.2182_2190delinsTTAGAGCAA	XP_011531363.1:p.Val728_His730delinsLeuGluGln
XM_011533062.1:c.2068_2076delinsTTAGAGCAA	XP_011531364.1:p.Val690_His692delinsLeuGluGln
XM_011533062.2:c.2068_2076delinsTTAGAGCAA	XP_011531364.1:p.Val690_His692delinsLeuGluGln
XM_011533063.1:c.2065_2073delinsTTAGAGCAA	XP_011531365.1:p.Val689_His691delinsLeuGluGln
XM_011533064.1:c.1918_1926delinsTTAGAGCAA	XP_011531366.1:p.Val640_His642delinsLeuGluGln
XM_011533064.2:c.1918_1926delinsTTAGAGCAA	XP_011531366.1:p.Val640_His642delinsLeuGluGln
XM_011533065.1:c.2182_2190delinsTTAGAGCAA	XP_011531367.1:p.Val728_His730delinsLeuGluGln
XM_011533066.1:c.1024_1032delinsTTAGAGCAA	XP_011531368.1:p.Val342_His344delinsLeuGluGln