Canonical Allele Identifier: CA2657598695

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697598-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697602dup , CM000684.2:g.50697602dup	GRCh38
NC_000022.10:g.51136030dup , CM000684.1:g.51136030dup	GRCh37
NC_000022.9:g.49482896dup	NCBI36
NG_008607.2:g.28248dup
NG_070230.1:g.33467dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.986dup	ENSP00000489147.2:p.Lys331GlufsTer24
ENST00000414786.7:n.1570dup
ENST00000445220.7:c.38dup	ENSP00000489407.2:p.Lys15GlufsTer24
ENST00000673971.2:c.1343dup	ENSP00000501192.1:p.Lys450GlufsTer24
ENST00000445220.6:c.38dup	ENSP00000489407.2:p.Lys15GlufsTer24
ENST00000262795.6:c.986dup	ENSP00000489147.2:p.Lys331GlufsTer24
ENST00000673971.1:c.1343dup	ENSP00000501192.1:p.Lys450GlufsTer24
ENST00000673995.1:c.39dup
ENST00000262795.5:c.1382dup	ENSP00000489147.1:p.Lys463GlufsTer24
ENST00000414786.6:n.1570dup
ENST00000445220.5:c.1364dup	ENSP00000489407.1:p.Lys457GlufsTer24