Canonical Allele Identifier: CA1026687073

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083089297
• gnomAD v3: 22-50697539-GCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC-G
• gnomAD v4: 22-50697539-GCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697541_50697585del , CM000684.2:g.50697541_50697585del	GRCh38
NC_000022.10:g.51135969_51136013del , CM000684.1:g.51135969_51136013del	GRCh37
NC_000022.9:g.49482835_49482879del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-23_969del
ENST00000414786.7:n.1532-23_1553del
ENST00000673971.2:c.1305-23_1326del
ENST00000262795.6:c.948-23_969del
ENST00000673971.1:c.1305-23_1326del
ENST00000262795.5:c.1345-24_1365del
ENST00000414786.6:n.1532-23_1553del
ENST00000445220.5:c.1326-23_1347del