Canonical Allele Identifier: CA2411007809

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083278004

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720766dup , CM000684.2:g.50720766dup	GRCh38
NC_000022.10:g.51159194dup , CM000684.1:g.51159194dup	GRCh37
NC_000022.9:g.49506060dup	NCBI36
NG_008607.2:g.51412dup
NG_070230.1:g.56550dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2534dup	ENSP00000489147.2:p.Gly846ArgfsTer?
ENST00000414786.7:n.3118dup
ENST00000445220.7:c.1586dup	ENSP00000489407.2:p.Gly530ArgfsTer?
ENST00000664402.2:c.1076dup	ENSP00000499475.1:p.Gly360ArgfsTer?
ENST00000673971.2:c.*1532dup	ENSP00000501192.1:n.*1532dup
ENST00000445220.6:c.1586dup	ENSP00000489407.2:p.Gly530ArgfsTer?
ENST00000262795.6:c.2534dup	ENSP00000489147.2:p.Gly846ArgfsTer?
ENST00000664402.1:c.1076dup	ENSP00000499475.1:p.Gly360ArgfsTer?
ENST00000673971.1:c.*1532dup	ENSP00000501192.1:n.*1532dup
ENST00000262795.5:c.2930dup	ENSP00000489147.1:p.Gly978ArgfsTer?
ENST00000414786.6:n.3118dup
ENST00000445220.5:c.2912dup	ENSP00000489407.1:p.Gly972ArgfsTer?