Canonical Allele Identifier: CA640358919
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs1194749298

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697498_50697504dup , CM000684.2:g.50697498_50697504dup GRCh38
NC_000022.10:g.51135926_51135932dup , CM000684.1:g.51135926_51135932dup GRCh37
NC_000022.9:g.49482792_49482798dup NCBI36
NG_008607.2:g.27857_27863dup
NG_070230.1:g.33076_33082dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-66_948-60dup ENSP00000489147.2:n.948-66_948-60dup
ENST00000414786.7:n.1532-66_1532-60dup
ENST00000673971.2:c.1305-66_1305-60dup ENSP00000501192.1:n.1305-66_1305-60dup
ENST00000262795.6:c.948-66_948-60dup ENSP00000489147.2:n.948-66_948-60dup
ENST00000673971.1:c.1305-66_1305-60dup ENSP00000501192.1:n.1305-66_1305-60dup
ENST00000262795.5:c.1345-67_1345-61dup ENSP00000489147.1:n.1345-67_1345-61dup
ENST00000414786.6:n.1532-66_1532-60dup
ENST00000445220.5:c.1326-66_1326-60dup ENSP00000489407.1:n.1326-66_1326-60dup