Canonical Allele Identifier: CA916082172

Gene: SOS1

Linked Data

• ClinVar Variation Id: 836615
• ClinVar RCV Id: RCV001037790
• dbSNP Id: rs1669838767

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022778_39022780del , CM000664.2:g.39022778_39022780del	GRCh38
NC_000002.11:g.39249919_39249921del , CM000664.1:g.39249919_39249921del	GRCh37
NC_000002.10:g.39103423_39103425del	NCBI36
NG_007530.1:g.102684_102686del , LRG_754:g.102684_102686del

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1528_1530del
ENST00000685279.1:c.415_417del	ENSP00000509424.1:p.Leu139del
ENST00000688043.1:n.1869_1871del
ENST00000689668.1:n.1655_1657del
ENST00000690876.1:c.1537_1539del	ENSP00000508955.1:p.Leu513del
ENST00000691229.1:c.1537_1539del	ENSP00000510437.1:p.Leu513del
ENST00000692089.1:c.1537_1539del	ENSP00000508626.1:p.Leu513del
ENST00000692620.1:c.415_417del	ENSP00000509311.1:p.Leu139del
ENST00000402219.8:c.1648_1650del MANE Select	ENSP00000384675.2:p.Leu550del
ENST00000395038.6:c.1648_1650del	ENSP00000378479.2:p.Leu550del
ENST00000402219.6:c.1648_1650del	ENSP00000384675.2:p.Leu550del
ENST00000426016.5:c.1648_1650del	ENSP00000387784.1:p.Leu550del
NM_005633.3:c.1648_1650del , LRG_754t1:c.1648_1650del	NP_005624.2:p.Leu550del
XM_005264515.3:c.1648_1650del	XP_005264572.1:p.Leu550del
XM_011533060.1:c.1741_1743del	XP_011531362.1:p.Leu581del
XM_011533061.1:c.1741_1743del	XP_011531363.1:p.Leu581del
XM_011533062.1:c.1627_1629del	XP_011531364.1:p.Leu543del
XM_011533063.1:c.1624_1626del	XP_011531365.1:p.Leu542del
XM_011533064.1:c.1477_1479del	XP_011531366.1:p.Leu493del
XM_011533065.1:c.1741_1743del	XP_011531367.1:p.Leu581del
XM_011533066.1:c.583_585del	XP_011531368.1:p.Leu195del
XM_005264515.4:c.1648_1650del	XP_005264572.1:p.Leu550del
XM_011533062.2:c.1627_1629del	XP_011531364.1:p.Leu543del
XM_011533064.2:c.1477_1479del	XP_011531366.1:p.Leu493del
NM_001382394.1:c.1627_1629del	NP_001369323.1:p.Leu543del
NM_001382395.1:c.1648_1650del	NP_001369324.1:p.Leu550del
NM_005633.4:c.1648_1650del MANE Select	NP_005624.2:p.Leu550del