Canonical Allele Identifier: CA1026687230
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs2083089520

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697543_50697583del , CM000684.2:g.50697543_50697583del GRCh38
NC_000022.10:g.51135971_51136011del , CM000684.1:g.51135971_51136011del GRCh37
NC_000022.9:g.49482837_49482877del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-21_967del
ENST00000414786.7:n.1532-21_1551del
ENST00000673971.2:c.1305-21_1324del
ENST00000262795.6:c.948-21_967del
ENST00000673971.1:c.1305-21_1324del
ENST00000262795.5:c.1345-22_1363del
ENST00000414786.6:n.1532-21_1551del
ENST00000445220.5:c.1326-21_1345del