Canonical Allele Identifier: CA2580099997

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1802552
• ClinVar RCV Id: RCV002465391

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721560dup , CM000684.2:g.50721560dup	GRCh38
NC_000022.10:g.51159988dup , CM000684.1:g.51159988dup	GRCh37
NC_000022.9:g.49506854dup	NCBI36
NG_008607.2:g.52206dup
NG_070230.1:g.57344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3328dup	ENSP00000489147.2:p.Gln1110ProfsTer?
ENST00000414786.7:n.3912dup
ENST00000445220.7:c.2380dup	ENSP00000489407.2:p.Gln794ProfsTer?
ENST00000664402.2:c.1870dup	ENSP00000499475.1:p.Gln624ProfsTer?
ENST00000673971.2:c.*2326dup	ENSP00000501192.1:n.*2326dup
ENST00000445220.6:c.2380dup	ENSP00000489407.2:p.Gln794ProfsTer?
ENST00000262795.6:c.3328dup	ENSP00000489147.2:p.Gln1110ProfsTer?
ENST00000664402.1:c.1870dup	ENSP00000499475.1:p.Gln624ProfsTer?
ENST00000673971.1:c.*2326dup	ENSP00000501192.1:n.*2326dup
ENST00000262795.5:c.3724dup	ENSP00000489147.1:p.Gln1242ProfsTer?
ENST00000414786.6:n.3912dup
ENST00000445220.5:c.3706dup	ENSP00000489407.1:p.Gln1236ProfsTer?