Canonical Allele Identifier: CA640359007
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs2083090056

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697568_50697569insGCCCCG , CM000684.2:g.50697568_50697569insGCCCCG GRCh38
NC_000022.10:g.51135996_51135997insGCCCCG , CM000684.1:g.51135996_51135997insGCCCCG GRCh37
NC_000022.9:g.49482862_49482863insGCCCCG NCBI36
NG_008607.2:g.28214_28215insGCCCCG
NG_070230.1:g.33433_33434insGCCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.952_953insGCCCCG ENSP00000489147.2:p.Pro317_Ala318insGlyPro
ENST00000414786.7:n.1536_1537insGCCCCG
ENST00000673971.2:c.1309_1310insGCCCCG ENSP00000501192.1:p.Pro436_Ala437insGlyPro
ENST00000262795.6:c.952_953insGCCCCG ENSP00000489147.2:p.Pro317_Ala318insGlyPro
ENST00000673971.1:c.1309_1310insGCCCCG ENSP00000501192.1:p.Pro436_Ala437insGlyPro
ENST00000673995.1:c.5_6insGCCCCG
ENST00000262795.5:c.1348_1349insGCCCCG
ENST00000414786.6:n.1536_1537insGCCCCG
ENST00000445220.5:c.1330_1331insGCCCCG ENSP00000489407.1:p.Pro443_Ala444insGlyPro