Canonical Allele Identifier: CA2657598759

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697609-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697610del , CM000684.2:g.50697610del	GRCh38
NC_000022.10:g.51136038del , CM000684.1:g.51136038del	GRCh37
NC_000022.9:g.49482904del	NCBI36
NG_008607.2:g.28256del
NG_070230.1:g.33475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.994del	ENSP00000489147.2:p.Arg332GlyfsTer15
ENST00000414786.7:n.1578del
ENST00000445220.7:c.46del	ENSP00000489407.2:p.Arg16GlyfsTer15
ENST00000673971.2:c.1351del	ENSP00000501192.1:p.Arg451GlyfsTer15
ENST00000445220.6:c.46del	ENSP00000489407.2:p.Arg16GlyfsTer15
ENST00000262795.6:c.994del	ENSP00000489147.2:p.Arg332GlyfsTer15
ENST00000673971.1:c.1351del	ENSP00000501192.1:p.Arg451GlyfsTer15
ENST00000673995.1:c.47del
ENST00000262795.5:c.1390del	ENSP00000489147.1:p.Arg464GlyfsTer15
ENST00000414786.6:n.1578del
ENST00000445220.5:c.1372del	ENSP00000489407.1:p.Arg458GlyfsTer15