Canonical Allele Identifier: CA2657598769

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697610-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697612dup , CM000684.2:g.50697612dup	GRCh38
NC_000022.10:g.51136040dup , CM000684.1:g.51136040dup	GRCh37
NC_000022.9:g.49482906dup	NCBI36
NG_008607.2:g.28258dup
NG_070230.1:g.33477dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.996dup	ENSP00000489147.2:p.Lys333GlufsTer22
ENST00000414786.7:n.1580dup
ENST00000445220.7:c.48dup	ENSP00000489407.2:p.Lys17GlufsTer22
ENST00000673971.2:c.1353dup	ENSP00000501192.1:p.Lys452GlufsTer22
ENST00000445220.6:c.48dup	ENSP00000489407.2:p.Lys17GlufsTer22
ENST00000262795.6:c.996dup	ENSP00000489147.2:p.Lys333GlufsTer22
ENST00000673971.1:c.1353dup	ENSP00000501192.1:p.Lys452GlufsTer22
ENST00000673995.1:c.49dup
ENST00000262795.5:c.1392dup	ENSP00000489147.1:p.Lys465GlufsTer22
ENST00000414786.6:n.1580dup
ENST00000445220.5:c.1374dup	ENSP00000489407.1:p.Lys459GlufsTer22