Canonical Allele Identifier: CA16621796
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 425285
ClinVar RCV Id: RCV000488191
dbSNP Id: rs1064797289

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697585dup , CM000684.2:g.50697585dup GRCh38
NC_000022.10:g.51136013dup , CM000684.1:g.51136013dup GRCh37
NC_000022.9:g.49482879dup NCBI36
NG_008607.2:g.28231dup
NG_070230.1:g.33450dup

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.969dup ENSP00000489147.2:p.Ala324ArgfsTer?
ENST00000414786.7:n.1553dup
ENST00000445220.7:c.21dup ENSP00000489407.2:p.Ala8ArgfsTer?
ENST00000673971.2:c.1326dup ENSP00000501192.1:p.Ala443ArgfsTer?
ENST00000445220.6:c.21dup ENSP00000489407.2:p.Ala8ArgfsTer?
ENST00000262795.6:c.969dup ENSP00000489147.2:p.Ala324ArgfsTer?
ENST00000673971.1:c.1326dup ENSP00000501192.1:p.Ala443ArgfsTer?
ENST00000673995.1:c.22dup
ENST00000262795.5:c.1365dup ENSP00000489147.1:p.Ala456ArgfsTer?
ENST00000414786.6:n.1553dup
ENST00000445220.5:c.1347dup ENSP00000489407.1:p.Ala450ArgfsTer?