Canonical Allele Identifier: CA297278

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40671
• ClinVar RCV Id: RCV000159179
• dbSNP Id: rs730881048
• MyVariant Identifiers: chr2:g.39250268_39250269delinsTT (hg19) ; chr2:g.39023127_39023128delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023127_39023128delinsTT , CM000664.2:g.39023127_39023128delinsTT	GRCh38
NC_000002.11:g.39250268_39250269delinsTT , CM000664.1:g.39250268_39250269delinsTT	GRCh37
NC_000002.10:g.39103772_39103773delinsTT	NCBI36
NG_007530.1:g.102336_102337delinsAA , LRG_754:g.102336_102337delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1180_1181delinsAA
ENST00000685279.1:c.67_68delinsAA	ENSP00000509424.1:p.Gly23Lys
ENST00000688043.1:n.1521_1522delinsAA
ENST00000689668.1:n.1307_1308delinsAA
ENST00000690876.1:c.1189_1190delinsAA	ENSP00000508955.1:p.Gly397Lys
ENST00000691229.1:c.1189_1190delinsAA	ENSP00000510437.1:p.Gly397Lys
ENST00000692089.1:c.1189_1190delinsAA	ENSP00000508626.1:p.Gly397Lys
ENST00000692620.1:c.67_68delinsAA	ENSP00000509311.1:p.Gly23Lys
ENST00000402219.8:c.1300_1301delinsAA MANE Select	ENSP00000384675.2:p.Gly434Lys
ENST00000395038.6:c.1300_1301delinsAA	ENSP00000378479.2:p.Gly434Lys
ENST00000402219.6:c.1300_1301delinsAA	ENSP00000384675.2:p.Gly434Lys
ENST00000426016.5:c.1300_1301delinsAA	ENSP00000387784.1:p.Gly434Lys
ENST00000472480.1:n.144_145delinsAA
NM_005633.3:c.1300_1301delinsAA , LRG_754t1:c.1300_1301delinsAA	NP_005624.2:p.Gly434Lys
XM_005264515.3:c.1300_1301delinsAA	XP_005264572.1:p.Gly434Lys
XM_011533060.1:c.1393_1394delinsAA	XP_011531362.1:p.Gly465Lys
XM_011533061.1:c.1393_1394delinsAA	XP_011531363.1:p.Gly465Lys
XM_011533062.1:c.1279_1280delinsAA	XP_011531364.1:p.Gly427Lys
XM_011533063.1:c.1276_1277delinsAA	XP_011531365.1:p.Gly426Lys
XM_011533064.1:c.1129_1130delinsAA	XP_011531366.1:p.Gly377Lys
XM_011533065.1:c.1393_1394delinsAA	XP_011531367.1:p.Gly465Lys
XM_011533066.1:c.235_236delinsAA	XP_011531368.1:p.Gly79Lys
XM_005264515.4:c.1300_1301delinsAA	XP_005264572.1:p.Gly434Lys
XM_011533062.2:c.1279_1280delinsAA	XP_011531364.1:p.Gly427Lys
XM_011533064.2:c.1129_1130delinsAA	XP_011531366.1:p.Gly377Lys
NM_001382394.1:c.1279_1280delinsAA	NP_001369323.1:p.Gly427Lys
NM_001382395.1:c.1300_1301delinsAA	NP_001369324.1:p.Gly434Lys
NM_005633.4:c.1300_1301delinsAA MANE Select	NP_005624.2:p.Gly434Lys