Canonical Allele Identifier: CA1026686745

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083088136
• gnomAD v3: 22-50697502-GCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC-G
• gnomAD v4: 22-50697502-GCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697504_50697597del , CM000684.2:g.50697504_50697597del	GRCh38
NC_000022.10:g.51135932_51136025del , CM000684.1:g.51135932_51136025del	GRCh37
NC_000022.9:g.49482798_49482891del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.948-60_981del
ENST00000414786.7:n.1532-60_1565del
ENST00000673971.2:c.1305-60_1338del
ENST00000262795.6:c.948-60_981del
ENST00000673971.1:c.1305-60_1338del
ENST00000262795.5:c.1345-61_1377del
ENST00000414786.6:n.1532-60_1565del
ENST00000445220.5:c.1326-60_1359del