Canonical Allele Identifier: CA204839

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721512dup , CM000684.2:g.50721512dup	GRCh38
NC_000022.10:g.51159940dup , CM000684.1:g.51159940dup	GRCh37
NC_000022.9:g.49506806dup	NCBI36
NG_008607.2:g.52158dup
NG_070230.1:g.57296dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3280dup	ENSP00000489147.2:p.Ala1094GlyfsTer?
ENST00000414786.7:n.3864dup
ENST00000445220.7:c.2332dup	ENSP00000489407.2:p.Ala778GlyfsTer?
ENST00000664402.2:c.1822dup	ENSP00000499475.1:p.Ala608GlyfsTer?
ENST00000673971.2:c.*2278dup	ENSP00000501192.1:n.*2278dup
ENST00000445220.6:c.2332dup	ENSP00000489407.2:p.Ala778GlyfsTer?
ENST00000262795.6:c.3280dup	ENSP00000489147.2:p.Ala1094GlyfsTer?
ENST00000664402.1:c.1822dup	ENSP00000499475.1:p.Ala608GlyfsTer?
ENST00000673971.1:c.*2278dup	ENSP00000501192.1:n.*2278dup
ENST00000262795.5:c.3676dup	ENSP00000489147.1:p.Ala1226GlyfsTer?
ENST00000414786.6:n.3864dup
ENST00000445220.5:c.3658dup	ENSP00000489407.1:p.Ala1220GlyfsTer?