Canonical Allele Identifier: CA2410995623
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50698008C= , CM000684.2:g.50698008C= GRCh38
NC_000022.10:g.51136436C= , CM000684.1:g.51136436C= GRCh37
NC_000022.9:g.49483302C= NCBI36
NG_008607.2:g.28654C=
NG_070230.1:g.33872C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.1099+293C= ENSP00000489147.2:n.1099+293C=
ENST00000414786.7:n.1683+293C=
ENST00000445220.7:c.151+293C= ENSP00000489407.2:n.151+293C=
ENST00000673971.2:c.1456+293C= ENSP00000501192.1:n.1456+293C=
ENST00000445220.6:c.151+293C= ENSP00000489407.2:n.151+293C=
ENST00000262795.6:c.1099+293C= ENSP00000489147.2:n.1099+293C=
ENST00000673838.1:n.10C=
ENST00000673971.1:c.1456+293C= ENSP00000501192.1:n.1456+293C=
ENST00000673995.1:c.153-136C=
ENST00000674010.1:n.10C=
ENST00000674145.1:n.10C=
ENST00000262795.5:c.1495+293C= ENSP00000489147.1:n.1495+293C=
ENST00000414786.6:n.1683+293C=
ENST00000445220.5:c.1477+293C= ENSP00000489407.1:n.1477+293C=