Canonical Allele Identifier: CA891843265

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38995210dup , CM000664.2:g.38995210dup	GRCh38
NC_000002.11:g.39222351dup , CM000664.1:g.39222351dup	GRCh37
NC_000002.10:g.39075855dup	NCBI36
NG_007530.1:g.130255dup , LRG_754:g.130255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2027dup	ENSP00000509424.1:p.Leu676PhefsTer20
ENST00000690876.1:c.*566dup	ENSP00000508955.1:n.*566dup
ENST00000691229.1:c.3029dup	ENSP00000510437.1:p.Leu1010PhefsTer20
ENST00000692089.1:c.3149dup	ENSP00000508626.1:p.Leu1050PhefsTer20
ENST00000692227.1:c.956dup	ENSP00000509138.1:p.Leu319PhefsTer20
ENST00000692620.1:c.*847dup	ENSP00000509311.1:n.*847dup
ENST00000402219.8:c.3260dup MANE Select	ENSP00000384675.2:p.Leu1087PhefsTer20
ENST00000395038.6:c.3260dup	ENSP00000378479.2:p.Leu1087PhefsTer20
ENST00000402219.6:c.3260dup	ENSP00000384675.2:p.Leu1087PhefsTer20
ENST00000426016.5:c.3260dup	ENSP00000387784.1:p.Leu1087PhefsTer20
NM_005633.3:c.3260dup , LRG_754t1:c.3260dup	NP_005624.2:p.Leu1087PhefsTer20
XM_005264515.3:c.3260dup	XP_005264572.1:p.Leu1087PhefsTer20
XM_011533060.1:c.3353dup	XP_011531362.1:p.Leu1118PhefsTer20
XM_011533061.1:c.3353dup	XP_011531363.1:p.Leu1118PhefsTer20
XM_011533062.1:c.3239dup	XP_011531364.1:p.Leu1080PhefsTer20
XM_011533063.1:c.3236dup	XP_011531365.1:p.Leu1079PhefsTer20
XM_011533064.1:c.3089dup	XP_011531366.1:p.Leu1030PhefsTer20
XM_011533065.1:c.3353dup	XP_011531367.1:p.Leu1118PhefsTer20
XM_011533066.1:c.2195dup	XP_011531368.1:p.Leu732PhefsTer20
XM_005264515.4:c.3260dup	XP_005264572.1:p.Leu1087PhefsTer20
XM_011533062.2:c.3239dup	XP_011531364.1:p.Leu1080PhefsTer20
XM_011533064.2:c.3089dup	XP_011531366.1:p.Leu1030PhefsTer20
NM_001382394.1:c.3239dup	NP_001369323.1:p.Leu1080PhefsTer20
NM_001382395.1:c.3260dup	NP_001369324.1:p.Leu1087PhefsTer20
NM_005633.4:c.3260dup MANE Select	NP_005624.2:p.Leu1087PhefsTer20