Canonical Allele Identifier: CA2410995633

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083095237

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50698028A>G , CM000684.2:g.50698028A>G	GRCh38
NC_000022.10:g.51136456A>G , CM000684.1:g.51136456A>G	GRCh37
NC_000022.9:g.49483322A>G	NCBI36
NG_008607.2:g.28674A>G
NG_070230.1:g.33892A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+313A>G	ENSP00000489147.2:n.1099+313A>G
ENST00000414786.7:n.1683+313A>G
ENST00000445220.7:c.151+313A>G	ENSP00000489407.2:n.151+313A>G
ENST00000673971.2:c.1456+313A>G	ENSP00000501192.1:n.1456+313A>G
ENST00000445220.6:c.151+313A>G	ENSP00000489407.2:n.151+313A>G
ENST00000262795.6:c.1099+313A>G	ENSP00000489147.2:n.1099+313A>G
ENST00000673838.1:n.30A>G
ENST00000673971.1:c.1456+313A>G	ENSP00000501192.1:n.1456+313A>G
ENST00000673995.1:c.153-116A>G
ENST00000674010.1:n.30A>G
ENST00000674145.1:n.30A>G
ENST00000262795.5:c.1495+313A>G	ENSP00000489147.1:n.1495+313A>G
ENST00000414786.6:n.1683+313A>G
ENST00000445220.5:c.1477+313A>G	ENSP00000489407.1:n.1477+313A>G