Canonical Allele Identifier: CA2576945397

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022954_39022957del , CM000664.2:g.39022954_39022957del	GRCh38
NC_000002.11:g.39250095_39250098del , CM000664.1:g.39250095_39250098del	GRCh37
NC_000002.10:g.39103599_39103602del	NCBI36
NG_007530.1:g.102510_102513del , LRG_754:g.102510_102513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1354_1357del
ENST00000685279.1:c.241_244del	ENSP00000509424.1:p.Glu81SerfsTer24
ENST00000688043.1:n.1695_1698del
ENST00000689668.1:n.1481_1484del
ENST00000690876.1:c.1363_1366del	ENSP00000508955.1:p.Glu455SerfsTer24
ENST00000691229.1:c.1363_1366del	ENSP00000510437.1:p.Glu455SerfsTer24
ENST00000692089.1:c.1363_1366del	ENSP00000508626.1:p.Glu455SerfsTer24
ENST00000692620.1:c.241_244del	ENSP00000509311.1:p.Glu81SerfsTer24
ENST00000402219.8:c.1474_1477del MANE Select	ENSP00000384675.2:p.Glu492SerfsTer24
ENST00000395038.6:c.1474_1477del	ENSP00000378479.2:p.Glu492SerfsTer24
ENST00000402219.6:c.1474_1477del	ENSP00000384675.2:p.Glu492SerfsTer24
ENST00000426016.5:c.1474_1477del	ENSP00000387784.1:p.Glu492SerfsTer24
ENST00000472480.1:n.318_321del
NM_005633.3:c.1474_1477del , LRG_754t1:c.1474_1477del	NP_005624.2:p.Glu492SerfsTer24
XM_005264515.3:c.1474_1477del	XP_005264572.1:p.Glu492SerfsTer24
XM_011533060.1:c.1567_1570del	XP_011531362.1:p.Glu523SerfsTer24
XM_011533061.1:c.1567_1570del	XP_011531363.1:p.Glu523SerfsTer24
XM_011533062.1:c.1453_1456del	XP_011531364.1:p.Glu485SerfsTer24
XM_011533063.1:c.1450_1453del	XP_011531365.1:p.Glu484SerfsTer24
XM_011533064.1:c.1303_1306del	XP_011531366.1:p.Glu435SerfsTer24
XM_011533065.1:c.1567_1570del	XP_011531367.1:p.Glu523SerfsTer24
XM_011533066.1:c.409_412del	XP_011531368.1:p.Glu137SerfsTer24
XM_005264515.4:c.1474_1477del	XP_005264572.1:p.Glu492SerfsTer24
XM_011533062.2:c.1453_1456del	XP_011531364.1:p.Glu485SerfsTer24
XM_011533064.2:c.1303_1306del	XP_011531366.1:p.Glu435SerfsTer24
NM_001382394.1:c.1453_1456del	NP_001369323.1:p.Glu485SerfsTer24
NM_001382395.1:c.1474_1477del	NP_001369324.1:p.Glu492SerfsTer24
NM_005633.4:c.1474_1477del MANE Select	NP_005624.2:p.Glu492SerfsTer24