Canonical Allele Identifier: CA3098631669
Community Standard Title: NC_000002.12:g.39013452_39013479dup
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39013452_39013479dup , CM000664.2:g.39013452_39013479dup GRCh38
NC_000002.11:g.39240593_39240620dup , CM000664.1:g.39240593_39240620dup GRCh37
NC_000002.10:g.39094097_39094124dup NCBI36
NG_007530.1:g.111985_112012dup , LRG_754:g.111985_112012dup

Transcript Alleles

HGVS Amino-acid Change
NM_001382394.1:c.2127_2146+8dup
NM_001382395.1:c.2148_2167+8dup
NM_005633.3:c.2148_2167+8dup , LRG_754t1:c.2148_2167+8dup
NM_005633.4:c.2148_2167+8dup
ENST00000395038.6:c.2148_2167+8dup
ENST00000402219.6:c.2148_2167+8dup
ENST00000402219.8:c.2148_2167+8dup
ENST00000426016.5:c.2148_2167+8dup
ENST00000685279.1:c.915_934+8dup
ENST00000688043.1:n.2369_2396dup
ENST00000689668.1:n.2155_2174+8dup
ENST00000690514.1:n.237_256+8dup
ENST00000690876.1:c.2037_2056+8dup
ENST00000691229.1:c.2037_2056+8dup
ENST00000692089.1:c.2037_2056+8dup
ENST00000692620.1:c.915_934+8dup
XM_005264515.3:c.2148_2167+8dup
XM_005264515.4:c.2148_2167+8dup
XM_011533060.1:c.2241_2260+8dup
XM_011533061.1:c.2241_2260+8dup
XM_011533062.1:c.2127_2146+8dup
XM_011533062.2:c.2127_2146+8dup
XM_011533063.1:c.2124_2143+8dup
XM_011533064.1:c.1977_1996+8dup
XM_011533064.2:c.1977_1996+8dup
XM_011533065.1:c.2241_2260+8dup
XM_011533066.1:c.1083_1102+8dup