Canonical Allele Identifier: CA2738232199

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146798841

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697568_50697569insGCCCCC , CM000684.2:g.50697568_50697569insGCCCCC	GRCh38
NC_000022.10:g.51135996_51135997insGCCCCC , CM000684.1:g.51135996_51135997insGCCCCC	GRCh37
NC_000022.9:g.49482862_49482863insGCCCCC	NCBI36
NG_008607.2:g.28214_28215insGCCCCC
NG_070230.1:g.33433_33434insGCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.952_953insGCCCCC	ENSP00000489147.2:p.Ala318delinsGlyProPro
ENST00000414786.7:n.1536_1537insGCCCCC
ENST00000445220.7:c.4_5insGCCCCC	ENSP00000489407.2:p.Ala2delinsGlyProPro
ENST00000673971.2:c.1309_1310insGCCCCC	ENSP00000501192.1:p.Ala437delinsGlyProPro
ENST00000445220.6:c.4_5insGCCCCC	ENSP00000489407.2:p.Ala2delinsGlyProPro
ENST00000262795.6:c.952_953insGCCCCC	ENSP00000489147.2:p.Ala318delinsGlyProPro
ENST00000673971.1:c.1309_1310insGCCCCC	ENSP00000501192.1:p.Ala437delinsGlyProPro
ENST00000673995.1:c.5_6insGCCCCC
ENST00000262795.5:c.1348_1349insGCCCCC	ENSP00000489147.1:p.Ala450delinsGlyProPro
ENST00000414786.6:n.1536_1537insGCCCCC
ENST00000445220.5:c.1330_1331insGCCCCC	ENSP00000489407.1:p.Ala444delinsGlyProPro