Canonical Allele Identifier: CA2819325436

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697574_50697575insATGGAGCGG , CM000684.2:g.50697574_50697575insATGGAGCGG	GRCh38
NC_000022.10:g.51136002_51136003insATGGAGCGG , CM000684.1:g.51136002_51136003insATGGAGCGG	GRCh37
NC_000022.9:g.49482868_49482869insATGGAGCGG	NCBI36
NG_008607.2:g.28220_28221insATGGAGCGG
NG_070230.1:g.33439_33440insATGGAGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.958_959insATGGAGCGG	ENSP00000489147.2:p.Pro320delinsHisGlyAlaAla
ENST00000414786.7:n.1542_1543insATGGAGCGG
ENST00000445220.7:c.10_11insATGGAGCGG	ENSP00000489407.2:p.Pro4delinsHisGlyAlaAla
ENST00000673971.2:c.1315_1316insATGGAGCGG	ENSP00000501192.1:p.Pro439delinsHisGlyAlaAla
ENST00000445220.6:c.10_11insATGGAGCGG	ENSP00000489407.2:p.Pro4delinsHisGlyAlaAla
ENST00000262795.6:c.958_959insATGGAGCGG	ENSP00000489147.2:p.Pro320delinsHisGlyAlaAla
ENST00000673971.1:c.1315_1316insATGGAGCGG	ENSP00000501192.1:p.Pro439delinsHisGlyAlaAla
ENST00000673995.1:c.11_12insATGGAGCGG
ENST00000262795.5:c.1354_1355insATGGAGCGG	ENSP00000489147.1:p.Pro452delinsHisGlyAlaAla
ENST00000414786.6:n.1542_1543insATGGAGCGG
ENST00000445220.5:c.1336_1337insATGGAGCGG	ENSP00000489407.1:p.Pro446delinsHisGlyAlaAla