Canonical Allele Identifier: CA1139667211

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 871609
• ClinVar RCV Id: RCV001091673
• dbSNP Id: rs2083297043

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722164_50722167dup , CM000684.2:g.50722164_50722167dup	GRCh38
NC_000022.10:g.51160592_51160595dup , CM000684.1:g.51160592_51160595dup	GRCh37
NC_000022.9:g.49507458_49507461dup	NCBI36
NG_008607.2:g.52810_52813dup
NG_070230.1:g.57948_57951dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3932_3935dup	ENSP00000489147.2:p.Gln1312HisfsTer?
ENST00000414786.7:n.4516_4519dup
ENST00000445220.7:c.2984_2987dup	ENSP00000489407.2:p.Gln996HisfsTer?
ENST00000664402.2:c.2474_2477dup	ENSP00000499475.1:p.Gln826HisfsTer?
ENST00000673971.2:c.*2930_*2933dup	ENSP00000501192.1:n.*2930_*2933dup
ENST00000445220.6:c.2984_2987dup	ENSP00000489407.2:p.Gln996HisfsTer?
ENST00000262795.6:c.3932_3935dup	ENSP00000489147.2:p.Gln1312HisfsTer?
ENST00000664402.1:c.2474_2477dup	ENSP00000499475.1:p.Gln826HisfsTer?
ENST00000673971.1:c.*2930_*2933dup	ENSP00000501192.1:n.*2930_*2933dup
ENST00000262795.5:c.4328_4331dup	ENSP00000489147.1:p.Gln1444HisfsTer?
ENST00000414786.6:n.4516_4519dup
ENST00000445220.5:c.4310_4313dup	ENSP00000489407.1:p.Gln1438HisfsTer?