Canonical Allele Identifier: CA2573055035

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1334393
• ClinVar RCV Id: RCV001813907
• dbSNP Id: rs2146831793

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721473dup , CM000684.2:g.50721473dup	GRCh38
NC_000022.10:g.51159901dup , CM000684.1:g.51159901dup	GRCh37
NC_000022.9:g.49506767dup	NCBI36
NG_008607.2:g.52119dup
NG_070230.1:g.57257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3241dup	ENSP00000489147.2:p.Ala1081GlyfsTer?
ENST00000414786.7:n.3825dup
ENST00000445220.7:c.2293dup	ENSP00000489407.2:p.Ala765GlyfsTer?
ENST00000664402.2:c.1783dup	ENSP00000499475.1:p.Ala595GlyfsTer?
ENST00000673971.2:c.*2239dup	ENSP00000501192.1:n.*2239dup
ENST00000445220.6:c.2293dup	ENSP00000489407.2:p.Ala765GlyfsTer?
ENST00000262795.6:c.3241dup	ENSP00000489147.2:p.Ala1081GlyfsTer?
ENST00000664402.1:c.1783dup	ENSP00000499475.1:p.Ala595GlyfsTer?
ENST00000673971.1:c.*2239dup	ENSP00000501192.1:n.*2239dup
ENST00000262795.5:c.3637dup	ENSP00000489147.1:p.Ala1213GlyfsTer?
ENST00000414786.6:n.3825dup
ENST00000445220.5:c.3619dup	ENSP00000489407.1:p.Ala1207GlyfsTer?