Canonical Allele Identifier: CA2657598669

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697593-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697594del , CM000684.2:g.50697594del	GRCh38
NC_000022.10:g.51136022del , CM000684.1:g.51136022del	GRCh37
NC_000022.9:g.49482888del	NCBI36
NG_008607.2:g.28240del
NG_070230.1:g.33459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.978del	ENSP00000489147.2:p.Arg328GlyfsTer19
ENST00000414786.7:n.1562del
ENST00000445220.7:c.30del	ENSP00000489407.2:p.Arg12GlyfsTer19
ENST00000673971.2:c.1335del	ENSP00000501192.1:p.Arg447GlyfsTer19
ENST00000445220.6:c.30del	ENSP00000489407.2:p.Arg12GlyfsTer19
ENST00000262795.6:c.978del	ENSP00000489147.2:p.Arg328GlyfsTer19
ENST00000673971.1:c.1335del	ENSP00000501192.1:p.Arg447GlyfsTer19
ENST00000673995.1:c.31del
ENST00000262795.5:c.1374del	ENSP00000489147.1:p.Arg460GlyfsTer19
ENST00000414786.6:n.1562del
ENST00000445220.5:c.1356del	ENSP00000489407.1:p.Arg454GlyfsTer19