Canonical Allele Identifier: CA2586964748

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022766_39022777del , CM000664.2:g.39022766_39022777del	GRCh38
NC_000002.11:g.39249907_39249918del , CM000664.1:g.39249907_39249918del	GRCh37
NC_000002.10:g.39103411_39103422del	NCBI36
NG_007530.1:g.102689_102700del , LRG_754:g.102689_102700del

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1533_1544del
ENST00000685279.1:c.420_431del	ENSP00000509424.1:p.Glu140_Leu143del
ENST00000688043.1:n.1874_1885del
ENST00000689668.1:n.1660_1671del
ENST00000690876.1:c.1542_1553del	ENSP00000508955.1:p.Glu514_Leu517del
ENST00000691229.1:c.1542_1553del	ENSP00000510437.1:p.Glu514_Leu517del
ENST00000692089.1:c.1542_1553del	ENSP00000508626.1:p.Glu514_Leu517del
ENST00000692620.1:c.420_431del	ENSP00000509311.1:p.Glu140_Leu143del
ENST00000402219.8:c.1653_1664del MANE Select	ENSP00000384675.2:p.Glu551_Leu554del
ENST00000395038.6:c.1653_1664del	ENSP00000378479.2:p.Glu551_Leu554del
ENST00000402219.6:c.1653_1664del	ENSP00000384675.2:p.Glu551_Leu554del
ENST00000426016.5:c.1653_1664del	ENSP00000387784.1:p.Glu551_Leu554del
NM_005633.3:c.1653_1664del , LRG_754t1:c.1653_1664del	NP_005624.2:p.Glu551_Leu554del
XM_005264515.3:c.1653_1664del	XP_005264572.1:p.Glu551_Leu554del
XM_011533060.1:c.1746_1757del	XP_011531362.1:p.Glu582_Leu585del
XM_011533061.1:c.1746_1757del	XP_011531363.1:p.Glu582_Leu585del
XM_011533062.1:c.1632_1643del	XP_011531364.1:p.Glu544_Leu547del
XM_011533063.1:c.1629_1640del	XP_011531365.1:p.Glu543_Leu546del
XM_011533064.1:c.1482_1493del	XP_011531366.1:p.Glu494_Leu497del
XM_011533065.1:c.1746_1757del	XP_011531367.1:p.Glu582_Leu585del
XM_011533066.1:c.588_599del	XP_011531368.1:p.Glu196_Leu199del
XM_005264515.4:c.1653_1664del	XP_005264572.1:p.Glu551_Leu554del
XM_011533062.2:c.1632_1643del	XP_011531364.1:p.Glu544_Leu547del
XM_011533064.2:c.1482_1493del	XP_011531366.1:p.Glu494_Leu497del
NM_001382394.1:c.1632_1643del	NP_001369323.1:p.Glu544_Leu547del
NM_001382395.1:c.1653_1664del	NP_001369324.1:p.Glu551_Leu554del
NM_005633.4:c.1653_1664del MANE Select	NP_005624.2:p.Glu551_Leu554del