Canonical Allele Identifier: CA2411008680
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50722205G= , CM000684.2:g.50722205G= GRCh38
NC_000022.10:g.51160633G= , CM000684.1:g.51160633G= GRCh37
NC_000022.9:g.49507499G= NCBI36
NG_008607.2:g.52851G=
NG_070230.1:g.57989G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3973G= ENSP00000489147.2:p.Ala1325=
ENST00000414786.7:n.4557G=
ENST00000445220.7:c.3025G= ENSP00000489407.2:p.Ala1009=
ENST00000664402.2:c.2515G= ENSP00000499475.1:p.Ala839=
ENST00000673971.2:c.*2971G= ENSP00000501192.1:n.*2971G=
ENST00000445220.6:c.3025G= ENSP00000489407.2:p.Ala1009=
ENST00000262795.6:c.3973G= ENSP00000489147.2:p.Ala1325=
ENST00000664402.1:c.2515G= ENSP00000499475.1:p.Ala839=
ENST00000673971.1:c.*2971G= ENSP00000501192.1:n.*2971G=
ENST00000262795.5:c.4369G= ENSP00000489147.1:p.Ala1457=
ENST00000414786.6:n.4557G=
ENST00000445220.5:c.4351G= ENSP00000489407.1:p.Ala1451=