Canonical Allele Identifier: CA640358994
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs1294088499

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697551_50697552del , CM000684.2:g.50697551_50697552del GRCh38
NC_000022.10:g.51135979_51135980del , CM000684.1:g.51135979_51135980del GRCh37
NC_000022.9:g.49482845_49482846del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-13_948-12del ENSP00000489147.2:n.948-13_948-12del
ENST00000414786.7:n.1532-13_1532-12del
ENST00000673971.2:c.1305-13_1305-12del ENSP00000501192.1:n.1305-13_1305-12del
ENST00000262795.6:c.948-13_948-12del ENSP00000489147.2:n.948-13_948-12del
ENST00000673971.1:c.1305-13_1305-12del ENSP00000501192.1:n.1305-13_1305-12del
ENST00000262795.5:c.1345-14_1345-13del ENSP00000489147.1:n.1345-14_1345-13del
ENST00000414786.6:n.1532-13_1532-12del
ENST00000445220.5:c.1326-13_1326-12del ENSP00000489407.1:n.1326-13_1326-12del