Canonical Allele Identifier: CA2410995355
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697583C= , CM000684.2:g.50697583C= GRCh38
NC_000022.10:g.51136011C= , CM000684.1:g.51136011C= GRCh37
NC_000022.9:g.49482877C= NCBI36
NG_008607.2:g.28229C=
NG_070230.1:g.33448C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.967C= ENSP00000489147.2:p.Pro323=
ENST00000414786.7:n.1551C=
ENST00000445220.7:c.19C= ENSP00000489407.2:p.Pro7=
ENST00000673971.2:c.1324C= ENSP00000501192.1:p.Pro442=
ENST00000445220.6:c.19C= ENSP00000489407.2:p.Pro7=
ENST00000262795.6:c.967C= ENSP00000489147.2:p.Pro323=
ENST00000673971.1:c.1324C= ENSP00000501192.1:p.Pro442=
ENST00000673995.1:c.20C=
ENST00000262795.5:c.1363C= ENSP00000489147.1:p.Pro455=
ENST00000414786.6:n.1551C=
ENST00000445220.5:c.1345C= ENSP00000489407.1:p.Pro449=