Canonical Allele Identifier: CA2582342889

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2585315
• ClinVar RCV Id: RCV003337931

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722221dup , CM000684.2:g.50722221dup	GRCh38
NC_000022.10:g.51160649dup , CM000684.1:g.51160649dup	GRCh37
NC_000022.9:g.49507515dup	NCBI36
NG_008607.2:g.52867dup
NG_070230.1:g.58005dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3989dup	ENSP00000489147.2:p.Arg1331SerfsTer24
ENST00000414786.7:n.4573dup
ENST00000445220.7:c.3041dup	ENSP00000489407.2:p.Arg1015SerfsTer24
ENST00000664402.2:c.2531dup	ENSP00000499475.1:p.Arg845SerfsTer24
ENST00000673971.2:c.*2987dup	ENSP00000501192.1:n.*2987dup
ENST00000445220.6:c.3041dup	ENSP00000489407.2:p.Arg1015SerfsTer24
ENST00000262795.6:c.3989dup	ENSP00000489147.2:p.Arg1331SerfsTer24
ENST00000664402.1:c.2531dup	ENSP00000499475.1:p.Arg845SerfsTer24
ENST00000673971.1:c.*2987dup	ENSP00000501192.1:n.*2987dup
ENST00000262795.5:c.4385dup	ENSP00000489147.1:p.Arg1463SerfsTer24
ENST00000414786.6:n.4573dup
ENST00000445220.5:c.4367dup	ENSP00000489407.1:p.Arg1457SerfsTer24