Canonical Allele Identifier: CA2657583122

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720404-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720405_50720406del , CM000684.2:g.50720405_50720406del	GRCh38
NC_000022.10:g.51158833_51158834del , CM000684.1:g.51158833_51158834del	GRCh37
NC_000022.9:g.49505699_49505700del	NCBI36
NG_008607.2:g.51051_51052del
NG_070230.1:g.56189_56190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2173_2174del	ENSP00000489147.2:p.Gly725ProfsTer?
ENST00000414786.7:n.2757_2758del
ENST00000445220.7:c.1225_1226del	ENSP00000489407.2:p.Gly409ProfsTer?
ENST00000664402.2:c.715_716del	ENSP00000499475.1:p.Gly239ProfsTer?
ENST00000673971.2:c.*1171_*1172del	ENSP00000501192.1:n.*1171_*1172del
ENST00000445220.6:c.1225_1226del	ENSP00000489407.2:p.Gly409ProfsTer?
ENST00000262795.6:c.2173_2174del	ENSP00000489147.2:p.Gly725ProfsTer?
ENST00000664402.1:c.715_716del	ENSP00000499475.1:p.Gly239ProfsTer?
ENST00000673971.1:c.*1171_*1172del	ENSP00000501192.1:n.*1171_*1172del
ENST00000262795.5:c.2569_2570del	ENSP00000489147.1:p.Gly857ProfsTer?
ENST00000414786.6:n.2757_2758del
ENST00000445220.5:c.2551_2552del	ENSP00000489407.1:p.Gly851ProfsTer?