Canonical Allele Identifier: CA2410995192

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083087036

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697407_50697421del , CM000684.2:g.50697407_50697421del	GRCh38
NC_000022.10:g.51135835_51135849del , CM000684.1:g.51135835_51135849del	GRCh37
NC_000022.9:g.49482701_49482715del	NCBI36
NG_008607.2:g.27766_27780del
NG_070230.1:g.32985_32999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-157_948-143del	ENSP00000489147.2:n.948-157_948-143del
ENST00000414786.7:n.1532-157_1532-143del
ENST00000673971.2:c.1305-157_1305-143del	ENSP00000501192.1:n.1305-157_1305-143del
ENST00000262795.6:c.948-157_948-143del	ENSP00000489147.2:n.948-157_948-143del
ENST00000673971.1:c.1305-157_1305-143del	ENSP00000501192.1:n.1305-157_1305-143del
ENST00000262795.5:c.1344+140_1345-144del	ENSP00000489147.1:n.1344+140_1345-144del
ENST00000414786.6:n.1532-157_1532-143del
ENST00000445220.5:c.1326-157_1326-143del	ENSP00000489407.1:n.1326-157_1326-143del