Canonical Allele Identifier: CA2580099945

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1709431
• ClinVar RCV Id: RCV002289246

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720578del , CM000684.2:g.50720578del	GRCh38
NC_000022.10:g.51159006del , CM000684.1:g.51159006del	GRCh37
NC_000022.9:g.49505872del	NCBI36
NG_008607.2:g.51224del
NG_070230.1:g.56362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2346del	ENSP00000489147.2:p.Glu783SerfsTer?
ENST00000414786.7:n.2930del
ENST00000445220.7:c.1398del	ENSP00000489407.2:p.Glu467SerfsTer?
ENST00000664402.2:c.888del	ENSP00000499475.1:p.Glu297SerfsTer?
ENST00000673971.2:c.*1344del	ENSP00000501192.1:n.*1344del
ENST00000445220.6:c.1398del	ENSP00000489407.2:p.Glu467SerfsTer?
ENST00000262795.6:c.2346del	ENSP00000489147.2:p.Glu783SerfsTer?
ENST00000664402.1:c.888del	ENSP00000499475.1:p.Glu297SerfsTer?
ENST00000673971.1:c.*1344del	ENSP00000501192.1:n.*1344del
ENST00000262795.5:c.2742del	ENSP00000489147.1:p.Glu915SerfsTer?
ENST00000414786.6:n.2930del
ENST00000445220.5:c.2724del	ENSP00000489407.1:p.Glu909SerfsTer?