Canonical Allele Identifier: CA2819325439

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697576_50697577insCCGG , CM000684.2:g.50697576_50697577insCCGG	GRCh38
NC_000022.10:g.51136004_51136005insCCGG , CM000684.1:g.51136004_51136005insCCGG	GRCh37
NC_000022.9:g.49482870_49482871insCCGG	NCBI36
NG_008607.2:g.28222_28223insCCGG
NG_070230.1:g.33441_33442insCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.960_961insCCGG	ENSP00000489147.2:p.Ala321ProfsTer?
ENST00000414786.7:n.1544_1545insCCGG
ENST00000445220.7:c.12_13insCCGG	ENSP00000489407.2:p.Ala5ProfsTer?
ENST00000673971.2:c.1317_1318insCCGG	ENSP00000501192.1:p.Ala440ProfsTer?
ENST00000445220.6:c.12_13insCCGG	ENSP00000489407.2:p.Ala5ProfsTer?
ENST00000262795.6:c.960_961insCCGG	ENSP00000489147.2:p.Ala321ProfsTer?
ENST00000673971.1:c.1317_1318insCCGG	ENSP00000501192.1:p.Ala440ProfsTer?
ENST00000673995.1:c.13_14insCCGG
ENST00000262795.5:c.1356_1357insCCGG	ENSP00000489147.1:p.Ala453ProfsTer?
ENST00000414786.6:n.1544_1545insCCGG
ENST00000445220.5:c.1338_1339insCCGG	ENSP00000489407.1:p.Ala447ProfsTer?