Canonical Allele Identifier: CA1026671883

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50720434-T-TG
• gnomAD v4: 22-50720434-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720435dup , CM000684.2:g.50720435dup	GRCh38
NC_000022.10:g.51158863dup , CM000684.1:g.51158863dup	GRCh37
NC_000022.9:g.49505729dup	NCBI36
NG_008607.2:g.51081dup
NG_070230.1:g.56219dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2203dup	ENSP00000489147.2:p.Ala735GlyfsTer?
ENST00000414786.7:n.2787dup
ENST00000445220.7:c.1255dup	ENSP00000489407.2:p.Ala419GlyfsTer?
ENST00000664402.2:c.745dup	ENSP00000499475.1:p.Ala249GlyfsTer?
ENST00000673971.2:c.*1201dup	ENSP00000501192.1:n.*1201dup
ENST00000445220.6:c.1255dup	ENSP00000489407.2:p.Ala419GlyfsTer?
ENST00000262795.6:c.2203dup	ENSP00000489147.2:p.Ala735GlyfsTer?
ENST00000664402.1:c.745dup	ENSP00000499475.1:p.Ala249GlyfsTer?
ENST00000673971.1:c.*1201dup	ENSP00000501192.1:n.*1201dup
ENST00000262795.5:c.2599dup	ENSP00000489147.1:p.Ala867GlyfsTer?
ENST00000414786.6:n.2787dup
ENST00000445220.5:c.2581dup	ENSP00000489407.1:p.Ala861GlyfsTer?