Canonical Allele Identifier: CA2841608995

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721979dup , CM000684.2:g.50721979dup	GRCh38
NC_000022.10:g.51160407dup , CM000684.1:g.51160407dup	GRCh37
NC_000022.9:g.49507273dup	NCBI36
NG_008607.2:g.52625dup
NG_070230.1:g.57763dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3747dup	ENSP00000489147.2:p.Ser1250ValfsTer12
ENST00000414786.7:n.4331dup
ENST00000445220.7:c.2799dup	ENSP00000489407.2:p.Ser934ValfsTer12
ENST00000664402.2:c.2289dup	ENSP00000499475.1:p.Ser764ValfsTer12
ENST00000673971.2:c.*2745dup	ENSP00000501192.1:n.*2745dup
ENST00000445220.6:c.2799dup	ENSP00000489407.2:p.Ser934ValfsTer12
ENST00000262795.6:c.3747dup	ENSP00000489147.2:p.Ser1250ValfsTer12
ENST00000664402.1:c.2289dup	ENSP00000499475.1:p.Ser764ValfsTer12
ENST00000673971.1:c.*2745dup	ENSP00000501192.1:n.*2745dup
ENST00000262795.5:c.4143dup	ENSP00000489147.1:p.Ser1382ValfsTer12
ENST00000414786.6:n.4331dup
ENST00000445220.5:c.4125dup	ENSP00000489407.1:p.Ser1376ValfsTer12