Canonical Allele Identifier: CA2658715386

Gene: SOS1

Linked Data

• gnomAD v4: 2-39022417-C-CCAAAGAAATATAAAGTGGGGTATTTTTAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022426_39022455dup , CM000664.2:g.39022426_39022455dup	GRCh38
NC_000002.11:g.39249567_39249596dup , CM000664.1:g.39249567_39249596dup	GRCh37
NC_000002.10:g.39103071_39103100dup	NCBI36
NG_007530.1:g.103017_103046dup , LRG_754:g.103017_103046dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1861_1890dup
ENST00000685279.1:c.625+123_625+152dup	ENSP00000509424.1:n.625+123_625+152dup
ENST00000688043.1:n.2079+123_2079+152dup
ENST00000689668.1:n.1865+123_1865+152dup
ENST00000690876.1:c.1747+123_1747+152dup	ENSP00000508955.1:n.1747+123_1747+152dup
ENST00000691229.1:c.1747+123_1747+152dup	ENSP00000510437.1:n.1747+123_1747+152dup
ENST00000692089.1:c.1747+123_1747+152dup	ENSP00000508626.1:n.1747+123_1747+152dup
ENST00000692620.1:c.625+123_625+152dup	ENSP00000509311.1:n.625+123_625+152dup
ENST00000402219.8:c.1858+123_1858+152dup MANE Select	ENSP00000384675.2:n.1858+123_1858+152dup
ENST00000395038.6:c.1858+123_1858+152dup	ENSP00000378479.2:n.1858+123_1858+152dup
ENST00000402219.6:c.1858+123_1858+152dup	ENSP00000384675.2:n.1858+123_1858+152dup
ENST00000426016.5:c.1858+123_1858+152dup	ENSP00000387784.1:n.1858+123_1858+152dup
NM_005633.3:c.1858+123_1858+152dup , LRG_754t1:c.1858+123_1858+152dup	NP_005624.2:n.1858+123_1858+152dup
XM_005264515.3:c.1858+123_1858+152dup	XP_005264572.1:n.1858+123_1858+152dup
XM_011533060.1:c.1951+123_1951+152dup	XP_011531362.1:n.1951+123_1951+152dup
XM_011533061.1:c.1951+123_1951+152dup	XP_011531363.1:n.1951+123_1951+152dup
XM_011533062.1:c.1837+123_1837+152dup	XP_011531364.1:n.1837+123_1837+152dup
XM_011533063.1:c.1834+123_1834+152dup	XP_011531365.1:n.1834+123_1834+152dup
XM_011533064.1:c.1687+123_1687+152dup	XP_011531366.1:n.1687+123_1687+152dup
XM_011533065.1:c.1951+123_1951+152dup	XP_011531367.1:n.1951+123_1951+152dup
XM_011533066.1:c.793+123_793+152dup	XP_011531368.1:n.793+123_793+152dup
XM_005264515.4:c.1858+123_1858+152dup	XP_005264572.1:n.1858+123_1858+152dup
XM_011533062.2:c.1837+123_1837+152dup	XP_011531364.1:n.1837+123_1837+152dup
XM_011533064.2:c.1687+123_1687+152dup	XP_011531366.1:n.1687+123_1687+152dup
NM_001382394.1:c.1837+123_1837+152dup	NP_001369323.1:n.1837+123_1837+152dup
NM_001382395.1:c.1858+123_1858+152dup	NP_001369324.1:n.1858+123_1858+152dup
NM_005633.4:c.1858+123_1858+152dup MANE Select	NP_005624.2:n.1858+123_1858+152dup