Canonical Allele Identifier: CA2657597169
Gene: SHANK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697353del , CM000684.2:g.50697353del GRCh38
NC_000022.10:g.51135781del , CM000684.1:g.51135781del GRCh37
NC_000022.9:g.49482647del NCBI36
NG_008607.2:g.27712del
NG_070230.1:g.32931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-211del ENSP00000489147.2:n.948-211del
ENST00000414786.7:n.1532-211del
ENST00000673971.2:c.1305-211del ENSP00000501192.1:n.1305-211del
ENST00000262795.6:c.948-211del ENSP00000489147.2:n.948-211del
ENST00000673971.1:c.1305-211del ENSP00000501192.1:n.1305-211del
ENST00000262795.5:c.1344+86del ENSP00000489147.1:n.1344+86del
ENST00000414786.6:n.1532-211del
ENST00000445220.5:c.1326-211del ENSP00000489407.1:n.1326-211del